Mark L Brantly

Mark L Brantly, M.D.

PROFESSOR

Department: MD-PULMONARY-OTHER
Business Phone: (352) 273-8740
Business Email: brantml@medicine.ufl.edu

Accomplishments

Foundation Research Professorship
1998 · Alpha-1
National Association Award
1995 · Alpha-1

Board Certifications

  • Pulmonary Disease
    American Board of Internal Medicine

Clinical Profile

Specialties
  • Medicine
Subspecialties
  • Pulmonary Disease
Areas of Interest
  • Alpha-1 antitrypsin blood test
  • Alpha-1 antitrypsin deficiency
  • Chronic obstructive pulmonary disease (COPD)

Publications

2021
Emergency myelopoiesis contributes to immune cell exhaustion and pulmonary vascular remodelling.
British journal of pharmacology. 178(1):187-202 [DOI] 10.1111/bph.14945. [PMID] 31793661.
2021
Quantitative measurement of the histological features of alpha-1 antitrypsin deficiency-associated liver disease in biopsy specimens.
PloS one. 16(8) [DOI] 10.1371/journal.pone.0256117. [PMID] 34398915.
2021
Relationship between alpha-1 antitrypsin deficiency and obstructive sleep apnea.
Sleep & breathing = Schlaf & Atmung. [DOI] 10.1007/s11325-021-02386-0. [PMID] 33931809.
2020
Alpha 1 Antitrypsin-Deficient Macrophages Have Impaired Efferocytosis of Apoptotic Neutrophils.
Frontiers in immunology. 11 [DOI] 10.3389/fimmu.2020.574410. [PMID] 33329539.
2020
Alpha-1 antitrypsin deficient individuals have circulating extracellular vesicles with profibrogenic cargo.
Cell communication and signaling : CCS. 18(1) [DOI] 10.1186/s12964-020-00648-0. [PMID] 32887613.
2020
An Erythritol-Sweetened Beverage Induces Satiety and Suppresses Ghrelin Compared to Aspartame in Healthy Non-Obese Subjects: A Pilot Study.
Cureus. 12(11) [DOI] 10.7759/cureus.11409. [PMID] 33194505.
2020
Detection of alpha-1 antitrypsin deficiency: the past, present and future.
Orphanet journal of rare diseases. 15(1) [DOI] 10.1186/s13023-020-01352-5. [PMID] 32306990.
2020
Intrahepatic heteropolymerization of M and Z alpha-1-antitrypsin.
JCI insight. 5(14) [DOI] 10.1172/jci.insight.135459. [PMID] 32699193.
2020
Neutrophil elastase promotes macrophage cell adhesion and cytokine production through the integrin-Src kinases pathway.
Scientific reports. 10(1) [DOI] 10.1038/s41598-020-72667-3. [PMID] 32981934.
2020
Obesity and STING1 genotype associate with 23-valent pneumococcal vaccination efficacy
JCI Insight. 5(9) [DOI] 10.1172/jci.insight.136141. [PMID] 32376795.
2019
A checkpoint on innate myeloid cells in pulmonary arterial hypertension.
Pulmonary circulation. 9(1) [DOI] 10.1177/2045894018823528. [PMID] 30562157.
2019
A Novel Small Molecule Inhibits Intrahepatocellular Accumulation of Z-Variant Alpha 1-Antitrypsin In Vitro and In Vivo.
Cells. 8(12) [DOI] 10.3390/cells8121586. [PMID] 31817705.
2019
A Woman With Dyspnea and Bronchiectasis.
JAMA. 322(6):571-572 [DOI] 10.1001/jama.2019.8606. [PMID] 31276152.
2019
Alpha-1 Antitrypsin Attenuates Acute Lung Allograft Injury in a Rat Lung Transplant Model.
Transplantation direct. 5(6) [DOI] 10.1097/TXD.0000000000000898. [PMID] 31723592.
2019
Alpha-1 Antitrypsin Deficiency Liver Disease, Mutational Homogeneity Modulated by Epigenetic Heterogeneity With Links to Obesity.
Hepatology (Baltimore, Md.). 70(1):51-66 [DOI] 10.1002/hep.30526. [PMID] 30681738.
2019
Analysis of the MILES cohort reveals determinants of disease progression and treatment response in lymphangioleiomyomatosis.
The European respiratory journal. 53(4) [DOI] 10.1183/13993003.02066-2018. [PMID] 30846465.
2019
Chemokine signaling axis between endothelial and myeloid cells regulates development of pulmonary hypertension associated with pulmonary fibrosis and hypoxia.
American journal of physiology. Lung cellular and molecular physiology. 317(4):L434-L444 [DOI] 10.1152/ajplung.00156.2019. [PMID] 31364370.
2019
Effect of atorvastatin on humoral immune response to 23-valent pneumococcal polysaccharide vaccination in healthy volunteers: The StatVax randomized clinical trial.
Vaccine. 37(10):1313-1324 [DOI] 10.1016/j.vaccine.2019.01.023. [PMID] 30686636.
2019
Modulation of calreticulin expression reveals a novel exosome-mediated mechanism of Z variant α1-antitrypsin disposal.
The Journal of biological chemistry. 294(16):6240-6252 [DOI] 10.1074/jbc.RA118.006142. [PMID] 30833329.
2019
Reply to: “Assessment of liver phenotype in adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype)”.
Journal of hepatology. 71(6) [DOI] 10.1016/j.jhep.2019.09.003. [PMID] 31606160.
2019
Serum Vascular Endothelial Growth Factor D in Cystic Lung Disease.
JAMA. 321(4):401-402 [DOI] 10.1001/jama.2018.20926. [PMID] 30605217.
2019
Smoking-related diffuse cystic lung disease.
Respiratory medicine case reports. 28 [DOI] 10.1016/j.rmcr.2019.100912. [PMID] 31384548.
2019
Targeting the site encoded by SERPINA1*E342K for treating alpha-1 antitrypsin deficiency-associated liver diseases.
FEBS letters. 593(14):1849-1862 [DOI] 10.1002/1873-3468.13452. [PMID] 31116417.
2018
Author Correction: α1-Antitrypsin deficiency.
Nature reviews. Disease primers. 4(1) [DOI] 10.1038/s41572-018-0043-2. [PMID] 30374103.
2018
Bronchoalveolar lavage (BAL) cells in idiopathic pulmonary fibrosis express a complex pro-inflammatory, pro-repair, angiogenic activation pattern, likely associated with macrophage iron accumulation.
PloS one. 13(4) [DOI] 10.1371/journal.pone.0194803. [PMID] 29649237.
2018
Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort.
Journal of hepatology. 69(6):1357-1364 [DOI] 10.1016/j.jhep.2018.08.005. [PMID] 30138687.
2018
Intravenous Alpha-1 Antitrypsin Therapy for Alpha-1 Antitrypsin Deficiency: The Current State of the Evidence.
Chronic obstructive pulmonary diseases (Miami, Fla.). 6(1):100-114 [DOI] 10.15326/jcopdf.6.1.2017.0185. [PMID] 30775428.
2018
Lymphangioleiomyomatosis (LAM).
American journal of respiratory and critical care medicine. 198(4):P7-P8 [DOI] 10.1164/rccm.1984P7. [PMID] 30109949.
2018
Myeloid-derived Suppressor Cells Are Necessary for Development of Pulmonary Hypertension.
American journal of respiratory cell and molecular biology. 58(2):170-180 [DOI] 10.1165/rcmb.2017-0214OC. [PMID] 28862882.
2018
Whole-Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease.
American journal of respiratory cell and molecular biology. 59(5):614-622 [DOI] 10.1165/rcmb.2018-0088OC. [PMID] 29949718.
2017
Alpha-1 Antitrypsin PiMZ Genotype Is Associated with Chronic Obstructive Pulmonary Disease in Two Racial Groups.
Annals of the American Thoracic Society. 14(8):1280-1287 [DOI] 10.1513/AnnalsATS.201611-838OC. [PMID] 28380308.
2017
Alpha-1 Antitrypsin-Deficient Macrophages Have Increased Matriptase-Mediated Proteolytic Activity
American Journal of Respiratory Cell and Molecular Biology. 57(2):238-247 [DOI] 10.1165/rcmb.2016-0366OC. [PMID] 28362108.
2017
Alpha1-antitrypsin Deficiency-Increased Knowledge and Diagnostic Testing after Viewing Short Instructional Video.
COPD. 14(1):52-55 [DOI] 10.1080/15412555.2016.1245280. [PMID] 27819491.
2017
Bioequivalence of a Liquid Formulation of Alpha1-Proteinase Inhibitor Compared with Prolastin®-C (Lyophilized Alpha1-PI) in Alpha1-Antitrypsin Deficiency.
COPD. 14(6):590-596 [DOI] 10.1080/15412555.2017.1376044. [PMID] 28985109.
2017
Erdj3 Has an Essential Role for Z Variant Alpha-1-Antitrypsin Degradation.
Journal of cellular biochemistry. 118(10):3090-3101 [DOI] 10.1002/jcb.26069. [PMID] 28419579.
2017
Serum Proteins Associated with Emphysema Progression in Severe Alpha-1 Antitrypsin Deficiency.
Chronic obstructive pulmonary diseases (Miami, Fla.). 4(3):204-216 [DOI] 10.15326/jcopdf.4.3.2016.0180. [PMID] 28848932.
2017
SVIP regulates Z variant alpha-1 antitrypsin retro-translocation by inhibiting ubiquitin ligase gp78.
PloS one. 12(3) [DOI] 10.1371/journal.pone.0172983. [PMID] 28301499.
2017
Using Organizational Philosophy to Create a Self-Sustaining Compensation Plan Without Harming Academic Missions.
Academic medicine : journal of the Association of American Medical Colleges. 92(8):1133-1137 [DOI] 10.1097/ACM.0000000000001484. [PMID] 28746136.
2016
Alpha-1 Antitrypsin Gene Therapy Ameliorates Bone Loss in Ovariectomy-Induced Osteoporosis Mouse Model.
Human gene therapy. 27(9):679-86 [DOI] 10.1089/hum.2016.029. [PMID] 27158796.
2016
The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult.
Chronic obstructive pulmonary diseases (Miami, Fla.). 3(3):668-682 [DOI] 10.15326/jcopdf.3.3.2015.0182. [PMID] 28848891.
2016
Transcription factor Bcl11b sustains iNKT1 and iNKT2 cell programs, restricts iNKT17 cell program, and governs iNKT cell survival.
Proceedings of the National Academy of Sciences of the United States of America. 113(27):7608-13 [DOI] 10.1073/pnas.1521846113. [PMID] 27330109.
2016
α1-Antitrypsin deficiency.
Nature reviews. Disease primers. 2 [DOI] 10.1038/nrdp.2016.51. [PMID] 27465791.
2015
Characterising the association of latency with α(1)-antitrypsin polymerisation using a novel monoclonal antibody.
The international journal of biochemistry & cell biology. 58:81-91 [DOI] 10.1016/j.biocel.2014.11.005. [PMID] 25462157.
2015
Clinical Trial Design for Alpha-1 Antitrypsin Deficiency: A Model for Rare Diseases.
Chronic obstructive pulmonary diseases (Miami, Fla.). 2(2):177-190 [DOI] 10.15326/jcopdf.2.2.2015.0132. [PMID] 28848840.
2015
In Situ Transplantation of Alginate Bioencapsulated Adipose Tissues Derived Stem Cells (ADSCs) via Hepatic Injection in a Mouse Model.
PloS one. 10(9) [DOI] 10.1371/journal.pone.0138184. [PMID] 26372641.
2015
Practicality of intermittent fasting in humans and its effect on oxidative stress and genes related to aging and metabolism.
Rejuvenation research. 18(2):162-72 [DOI] 10.1089/rej.2014.1624. [PMID] 25546413.
2014
Appropriateness of newborn screening for α1-antitrypsin deficiency.
Journal of pediatric gastroenterology and nutrition. 58(2):199-203 [DOI] 10.1097/MPG.0000000000000196. [PMID] 24121147.
2014
Biochemical efficacy and safety of a new, ready-to-use, liquid alpha-1-proteinase inhibitor, GLASSIA (alpha1-proteinase inhibitor (human), intravenous).
COPD. 11(1):17-25 [DOI] 10.3109/15412555.2013.804500. [PMID] 23822603.
2014
Circulating polymers in α1-antitrypsin deficiency.
The European respiratory journal. 43(5):1501-4 [DOI] 10.1183/09031936.00111213. [PMID] 24603821.
2014
Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.
American journal of respiratory and critical care medicine. 189(4):408-18 [DOI] 10.1164/rccm.201306-1061OC. [PMID] 24383474.
2014
Longer telomere length in COPD patients with α1-antitrypsin deficiency independent of lung function.
PloS one. 9(4) [DOI] 10.1371/journal.pone.0095600. [PMID] 24763308.
2014
Reprogramming adipose tissue-derived mesenchymal stem cells into pluripotent stem cells by a mutant adeno-associated viral vector.
Human gene therapy methods. 25(1):72-82 [DOI] 10.1089/hgtb.2013.011. [PMID] 24191859.
2014
TREM-1 is induced in tumor associated macrophages by cyclo-oxygenase pathway in human non-small cell lung cancer.
PloS one. 9(5) [DOI] 10.1371/journal.pone.0094241. [PMID] 24842612.
2014
Triggering receptor expressed on myeloid cells 1 (TREM-1)-mediated Bcl-2 induction prolongs macrophage survival.
The Journal of biological chemistry. 289(21):15118-29 [DOI] 10.1074/jbc.M113.536490. [PMID] 24711453.
2013
Alpha-1 antitrypsin augmentation therapy and biomarkers of elastin degradation.
COPD. 10(4):473-81 [DOI] 10.3109/15412555.2013.771163. [PMID] 23560990.
2013
Development, validation and use of ELISA for antibodies to human alpha-1 antitrypsin.
Journal of immunological methods. 388(1-2):18-24 [DOI] 10.1016/j.jim.2012.11.008. [PMID] 23195820.
2013
Human Treg responses allow sustained recombinant adeno-associated virus-mediated transgene expression.
The Journal of clinical investigation. 123(12):5310-8 [DOI] 10.1172/JCI70314. [PMID] 24231351.
2013
Safety and pharmacokinetics of 120 mg/kg versus 60 mg/kg weekly intravenous infusions of alpha-1 proteinase inhibitor in alpha-1 antitrypsin deficiency: a multicenter, randomized, double-blind, crossover study (SPARK).
COPD. 10(6):687-95 [DOI] 10.3109/15412555.2013.800852. [PMID] 23862647.
2013
Serum VEGF-D a concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial.
The Lancet. Respiratory medicine. 1(6):445-52 [PMID] 24159565.
View on: PubMed
2013
The challenge of detecting alpha-1 antitrypsin deficiency.
COPD. 10 Suppl 1:26-34 [DOI] 10.3109/15412555.2013.763782. [PMID] 23527684.
2013
The Prevalence of Alpha-1 Antitrypsin Deficiency Among Patients Found To Have Airflow Obstruction (Vol 9, Pg 352, 2012)
Copd-Journal of Chronic Obstructive Pulmonary Disease. 10(4):555-555 [DOI] 10.3109/15412555.2013.784733.
2012
Alpha-1 Antitrypsin (Aat) Expression 1 Year After Im Administration of Raav1-Cb-Haat in a Phase 2 Clinical Trial
Molecular Therapy. 20:S91-S92
2012
Association of cigarette smoking and CRP levels with DNA methylation in α-1 antitrypsin deficiency.
Epigenetics. 7(7):720-8 [DOI] 10.4161/epi.20319. [PMID] 22617718.
2012
Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency.
Respiratory research. 13 [DOI] 10.1186/1465-9921-13-16. [PMID] 22356581.
2012
Cytosolic, autocrine alpha-1 proteinase inhibitor (A1PI) inhibits caspase-1 and blocks IL-1β dependent cytokine release in monocytes.
PloS one. 7(11) [DOI] 10.1371/journal.pone.0051078. [PMID] 23226468.
2012
Liver test results do not identify liver disease in adults with α(1)-antitrypsin deficiency.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association. 10(11):1278-83 [DOI] 10.1016/j.cgh.2012.07.007. [PMID] 22835581.
2012
The prevalence of alpha-1 antitrypsin deficiency among patients found to have airflow obstruction.
COPD. 9(4):352-8 [DOI] 10.3109/15412555.2012.669433. [PMID] 22506682.
2011
Alpha-1 antitrypsin protein and gene therapies decrease autoimmunity and delay arthritis development in mouse model.
Journal of translational medicine. 9 [DOI] 10.1186/1479-5876-9-21. [PMID] 21345239.
2011
Alt Abnormalities in Adults With Alpha-1 Antitrypsin Deficiency
. 54
2011
Efficacy and safety of sirolimus in lymphangioleiomyomatosis.
The New England journal of medicine. 364(17):1595-606 [DOI] 10.1056/NEJMoa1100391. [PMID] 21410393.
2011
Phase 2 clinical trial of a recombinant adeno-associated viral vector expressing α1-antitrypsin: interim results.
Human gene therapy. 22(10):1239-47 [DOI] 10.1089/hum.2011.053. [PMID] 21609134.
2010
Accelerated spirometric decline in New York City firefighters with α₁-antitrypsin deficiency.
Chest. 138(5):1116-24 [DOI] 10.1378/chest.10-0187. [PMID] 20634282.
2010
Alpha₁-antitrypsin deficiency-related alleles Z and S and the risk of Wegener’s granulomatosis.
Arthritis and rheumatism. 62(12):3760-7 [DOI] 10.1002/art.27742. [PMID] 20827781.
2010
Augmentation therapy in alpha-1 antitrypsin deficiency: advances and controversies.
Therapeutic advances in respiratory disease. 4(5):289-312 [DOI] 10.1177/1753465810373911. [PMID] 20650978.
2010
Intradermal alpha1-antitrypsin therapy avoids fatal anaphylaxis, prevents type 1 diabetes and reverses hyperglycaemia in the NOD mouse model of the disease.
Diabetologia. 53(10):2198-204 [DOI] 10.1007/s00125-010-1829-2. [PMID] 20593162.
2010
Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease?
Pulmonary medicine. 2010 [DOI] 10.1155/2010/570679. [PMID] 21687342.
2010
Pharmacokinetic comparability of Prolastin®-C to Prolastin® in alpha₁-antitrypsin deficiency: a randomized study.
BMC clinical pharmacology. 10 [DOI] 10.1186/1472-6904-10-13. [PMID] 20920295.
2009
Alpha 1-Antitrypsin Deficiency and the Risk for Wegener’s Granulomatosis
Apmis. 117
2009
Alpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue Bank.
International journal of chronic obstructive pulmonary disease. 4:443-52 [PMID] 20054436.
View on: PubMed
2009
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.
American journal of respiratory and critical care medicine. 180(11):1114-21 [DOI] 10.1164/rccm.200901-0023OC. [PMID] 19729668.
2009
Development of predictive models for airflow obstruction in alpha-1-antitrypsin deficiency.
American journal of epidemiology. 170(8):1005-13 [DOI] 10.1093/aje/kwp216. [PMID] 19726494.
2009
Evaluation of Recombinant Adeno-Associated Virus (Raav) Alpha-1 Antitrypsin (Aat) Gene Therapy in Mice and Nonhuman Primates
Molecular Therapy. 17
2009
Heritability of lung function in severe alpha-1 antitrypsin deficiency.
Human heredity. 67(1):38-45 [DOI] 10.1159/000164397. [PMID] 18931508.
2009
Nuclear localization of active matrix metalloproteinase-2 in cigarette smoke-exposed apoptotic endothelial cells.
Experimental lung research. 35(1):59-75 [DOI] 10.1080/01902140802406059. [PMID] 19191105.
2009
Quantitative airway assessment on computed tomography in patients with alpha1-antitrypsin deficiency.
COPD. 6(6):468-77 [DOI] 10.3109/15412550903341521. [PMID] 19938971.
2009
Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency.
Hepatology (Baltimore, Md.). 50(1):275-81 [DOI] 10.1002/hep.22974. [PMID] 19444872.
2009
Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy.
Proceedings of the National Academy of Sciences of the United States of America. 106(38):16363-8 [DOI] 10.1073/pnas.0904514106. [PMID] 19706466.
2008
Alpha-1-antitrypsin aerosolised augmentation abrogates neutrophil elastase-induced expression of cathepsin B and matrix metalloprotease 2 in vivo and in vitro.
Thorax. 63(7):621-6 [DOI] 10.1136/thx.2007.088559. [PMID] 18250185.
2008
Endothelial alpha-1-antitrypsin attenuates cigarette smoke induced apoptosis in vitro.
COPD. 5(3):153-62 [DOI] 10.1080/15412550802092936. [PMID] 18568839.
2008
Human alpha 1-antitrypsin therapy induces fatal anaphylaxis in non-obese diabetic mice.
Clinical and experimental immunology. 154(1):15-21 [DOI] 10.1111/j.1365-2249.2008.03721.x. [PMID] 18759852.
2008
IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency.
American journal of respiratory cell and molecular biology. 38(1):114-20 [PMID] 17690329.
View on: PubMed
2008
Thioredoxin as a biomarker for graft rejection in lung transplant recipients.
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals. 13(5):486-95 [PMID] 18979641.
View on: PubMed
2007
Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency.
Thorax. 62(9):806-13 [PMID] 17389752.
View on: PubMed
2007
In vivo post-transcriptional gene silencing of alpha-1 antitrypsin by adeno-associated virus vectors expressing siRNA.
Laboratory investigation; a journal of technical methods and pathology. 87(9):893-902 [PMID] 17592477.
View on: PubMed
2007
Prevalence of alpha-1 antitrypsin deficiency in poorly controlled asthma–results from the ALA-ACRC low-dose theophylline trial.
The Journal of asthma : official journal of the Association for the Care of Asthma. 44(8):605-8 [PMID] 17943569.
View on: PubMed
2007
Primary care diagnosis of alpha-1 antitrypsin deficiency: issues and opportunities.
Cleveland Clinic journal of medicine. 74(12):869-74 [PMID] 18183837.
View on: PubMed
2006
Does the heterozygous state of alpha-1 antitrypsin deficiency have a role in chronic liver diseases? Interim results of a large case-control study.
Journal of pediatric gastroenterology and nutrition. 43 Suppl 1:S30-5 [PMID] 16819398.
View on: PubMed
2006
Efficient and accurate approaches to the laboratory diagnosis of alpha1-antitrypsin deficiency: The promise of early diagnosis and intervention.
Clinical chemistry. 52(12):2180-1 [PMID] 17138849.
View on: PubMed
2006
Genetic testing of minors for alpha1-antitrypsin deficiency.
Archives of pediatrics & adolescent medicine. 160(5):531-4 [PMID] 16651497.
View on: PubMed
2006
Multi-center study: the biochemical efficacy, safety and tolerability of a new alpha1-proteinase inhibitor, Zemaira.
COPD. 3(1):17-23 [PMID] 17175661.
View on: PubMed
2006
Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults.
Human gene therapy. 17(12):1177-86 [PMID] 17115945.
View on: PubMed
2006
Short-term atorvastatin treatment enhances specific antibody production following tetanus toxoid vaccination in healthy volunteers.
Vaccine. 24(19):4035-40 [PMID] 16464519.
View on: PubMed
2005
[American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency].
Pneumologie (Stuttgart, Germany). 59(1):36-68 [PMID] 15685488.
View on: PubMed
2005
Antibody response to aerosolized transgenic human alpha1-antitrypsin.
The New England journal of medicine. 352(19):2030-1 [PMID] 15888711.
View on: PubMed
2005
Cytotoxic concentrations of alpha-defensins in the lungs of individuals with alpha 1-antitrypsin deficiency and moderate to severe lung disease.
Cytokine. 32(1):1-6 [PMID] 16137891.
View on: PubMed
2004
Differential metabolic effects of saturated versus polyunsaturated fats in ketogenic diets.
The Journal of clinical endocrinology and metabolism. 89(4):1641-5 [PMID] 15070924.
View on: PubMed
2004
Genetic testing for alpha1-antitrypsin deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics. 6(4):204-10 [PMID] 15266208.
View on: PubMed
2004
Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults.
Human gene therapy. 15(1):93-128 [PMID] 14965381.
View on: PubMed
2004
Role of human neutrophil peptides in lung inflammation associated with alpha1-antitrypsin deficiency.
American journal of physiology. Lung cellular and molecular physiology. 286(3):L514-20 [PMID] 14594730.
View on: PubMed
2004
Z alpha1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant.
Chest. 125(5):1952-7 [PMID] 15136414.
View on: PubMed
2003
Asthma features in severe alpha1-antitrypsin deficiency: experience of the National Heart, Lung, and Blood Institute Registry.
Chest. 123(3):765-71 [PMID] 12628876.
View on: PubMed
2002
Alpha1-antitrypsin: not just an antiprotease: extending the half-life of a natural anti-inflammatory molecule by conjugation with polyethylene glycol.
American journal of respiratory cell and molecular biology. 27(6):652-4 [PMID] 12444023.
View on: PubMed
2002
Biochemical efficacy and safety of a new pooled human plasma alpha(1)-antitrypsin, Respitin.
Chest. 122(1):66-74 [PMID] 12114340.
View on: PubMed
2002
Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.
Molecular genetics and metabolism. 76(3):234-42 [PMID] 12126938.
View on: PubMed
2002
Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.
AJR. American journal of roentgenology. 179(4):887-92 [PMID] 12239031.
View on: PubMed
2001
Pulmonary dysfunction in adults with nephropathic cystinosis.
Chest. 119(2):394-401 [PMID] 11171714.
View on: PubMed
2000
Formation and current results of a patient-organized registry for alpha(1)-antitrypsin deficiency.
Chest. 118(3):843-8 [PMID] 10988213.
View on: PubMed
2000
Inhibition of recombinant adeno-associated virus (rAAV) transduction by bronchial secretions from cystic fibrosis patients.
Gene therapy. 7(20):1783-9 [PMID] 11083501.
View on: PubMed
2000
Molecular mechanisms of alpha1-antitrypsin null alleles.
Respiratory medicine. 94 Suppl C:S7-11 [PMID] 10954248.
View on: PubMed
2000
Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.
Chest. 117(1):129-36 [PMID] 10631210.
View on: PubMed
1999
Efficient in vivo catheter-based pericardial gene transfer mediated by adenoviral vectors.
Clinical cardiology. 22(1 Suppl 1):I23-9 [PMID] 9929764.
View on: PubMed
1999
Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in alpha1-antitrypsin deficiency.
American journal of respiratory cell and molecular biology. 20(3):441-7 [PMID] 10030842.
View on: PubMed
1998
alpha 1-antitrypsin deficiency.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace. 53(6):606-8 [PMID] 10063329.
View on: PubMed
1998
Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA.
Molecular genetics and metabolism. 63(4):270-80 [PMID] 9635295.
View on: PubMed
1998
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).
The New England journal of medicine. 338(18):1258-64 [PMID] 9562579.
View on: PubMed
1998
Inhibition of intracellular degradation increases secretion of a mutant form of alpha1-antitrypsin associated with profound deficiency.
The Journal of clinical investigation. 101(12):2693-701 [PMID] 9637703.
View on: PubMed
1998
Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors.
Proceedings of the National Academy of Sciences of the United States of America. 95(24):14384-8 [PMID] 9826709.
View on: PubMed
1997
alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant [corrected; erratum to be published].
American journal of respiratory cell and molecular biology. 16(3):225-31 [PMID] 9070606.
View on: PubMed
1997
Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group.
Chest. 111(2):394-403 [PMID] 9041988.
View on: PubMed
1997
Rapid development of hepatic alpha1-antitrypsin globules after liver transplantation for chronic hepatitis C.
Gastroenterology. 112(4):1372-5 [PMID] 9098024.
View on: PubMed
1996
Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group.
American journal of respiratory and critical care medicine. 154(6 Pt 1):1718-25 [PMID] 8970361.
View on: PubMed
1996
Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.
Nature genetics. 12(3):266-73 [PMID] 8589717.
View on: PubMed
1995
Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.
Glycobiology. 5(5):503-10 [PMID] 8563136.
View on: PubMed
1995
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
Human mutation. 6(1):66-73 [PMID] 7550234.
View on: PubMed
1995
Is rotavirus a population of reassortants?
Trends in microbiology. 3(4):159-62 [PMID] 7613759.
View on: PubMed
1994
Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency.
Annals of allergy. 72(2):105-20; quiz 120 [PMID] 8109800.
View on: PubMed
1994
Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.
Pediatric research. 35(2):197-204 [PMID] 8165055.
View on: PubMed
1993
Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing.
Human molecular genetics. 2(7):1001-5 [PMID] 8364536.
View on: PubMed
1993
Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte.
Human mutation. 2(3):221-8 [PMID] 8364590.
View on: PubMed
1991
Characterization of the molecular basis of the alpha 1-antitrypsin F allele.
American journal of human genetics. 48(6):1154-8 [PMID] 2035534.
View on: PubMed
1991
Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes.
Chest. 100(3):703-8 [PMID] 1889260.
View on: PubMed
1990
Alpha 1-antitrypsin Wbethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant.
Biochemical and biophysical research communications. 170(3):1013-20 [PMID] 2390072.
View on: PubMed
1990
Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein isoelectric focusing pattern.
American journal of human genetics. 46(4):810-6 [PMID] 2316526.
View on: PubMed
1990
Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.
The American review of respiratory disease. 142(5):1185-92 [PMID] 2240842.
View on: PubMed
1989
Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.
The Journal of clinical investigation. 83(4):1144-52 [PMID] 2539391.
View on: PubMed
1989
Anti-neutrophil-elastase defenses of the lower respiratory tract in alpha 1-antitrypsin deficiency directly augmented with an aerosol of alpha 1-antitrypsin.
Annals of internal medicine. 111(3):206-12 [PMID] 2787611.
View on: PubMed
1989
Characterization of the coding sequence of the normal M4 alpha 1-antitrypsin gene.
Biochemical and biophysical research communications. 162(3):1560-70 [PMID] 2788414.
View on: PubMed
1989
Characterization of the intracellular mechanism causing the alpha-1-antitrypsin Nullgranite falls deficiency state.
The American review of respiratory disease. 140(6):1662-7 [PMID] 2481421.
View on: PubMed
1989
Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton.
The Journal of biological chemistry. 264(23):13938-45 [PMID] 2788166.
View on: PubMed
1989
Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification.
The Journal of laboratory and clinical medicine. 114(2):105-13 [PMID] 2787825.
View on: PubMed
1989
The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy.
Chest. 95(1):196-208 [PMID] 2642408.
View on: PubMed
1988
Characterization of the gene and protein of the alpha 1-antitrypsin “deficiency” allele Mprocida.
The Journal of biological chemistry. 263(30):15528-34 [PMID] 3262617.
View on: PubMed
1988
Characterization of the gene and protein of the common alpha 1-antitrypsin normal M2 allele.
American journal of human genetics. 43(3):322-30 [PMID] 2901226.
View on: PubMed
1988
Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms.
The American review of respiratory disease. 138(2):327-36 [PMID] 3264124.
View on: PubMed
1988
Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.
American journal of human genetics. 42(1):77-83 [PMID] 3257351.
View on: PubMed
1988
Evaluation of the S-type of alpha-1-antitrypsin as an in vivo and in vitro inhibitor of neutrophil elastase.
The American review of respiratory disease. 137(2):364-70 [PMID] 3257660.
View on: PubMed
1988
Molecular basis of alpha-1-antitrypsin deficiency.
The American journal of medicine. 84(6A):13-31 [PMID] 3289385.
View on: PubMed
1988
Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation.
Science (New York, N.Y.). 242(4886):1700-2 [PMID] 2904702.
View on: PubMed
1987
alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon.
The Journal of biological chemistry. 262(25):11999-2004 [PMID] 3040726.
View on: PubMed
1987
Characterization of the M1(Ala213) type of alpha 1-antitrypsin, a newly recognized, common “normal” alpha 1-antitrypsin haplotype.
Biochemistry. 26(17):5259-67 [PMID] 2890373.
View on: PubMed
1987
Evaluation of tamoxifen as a therapy to augment alpha-1-antitrypsin concentrations in Z homozygous alpha-1-antitrypsin-deficient subjects.
The American review of respiratory disease. 135(2):401-2 [PMID] 3492949.
View on: PubMed
1987
Production of glycosylated physiologically “normal” human alpha 1-antitrypsin by mouse fibroblasts modified by insertion of a human alpha 1-antitrypsin cDNA using a retroviral vector.
Proceedings of the National Academy of Sciences of the United States of America. 84(4):1050-4 [PMID] 3029759.
View on: PubMed
1986
Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes.
The New England journal of medicine. 314(12):762-6 [PMID] 3485249.
View on: PubMed
1986
Evaluation of “at risk” alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes.
The Journal of clinical investigation. 77(2):528-37 [PMID] 3484754.
View on: PubMed
1986
Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth.
Biochemistry. 25(6):1408-13 [PMID] 3754462.
View on: PubMed
1986
Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.
The Journal of biological chemistry. 261(34):15989-94 [PMID] 3491072.
View on: PubMed
1984
Heparin as a pharmacologic intervention to induce positive scintiscan in occult gastrointestinal bleeding.
Clinical nuclear medicine. 9(4):187-8 [PMID] 6609790.
View on: PubMed

Grants

Aug 2021 ACTIVE
Takeda Consulting Agreement
Role: Principal Investigator
Funding: TAKEDA DEVELOPMENT CENTER AMERICAS INC
Jul 2021 ACTIVE
A high concentration of a-defensins impairs macrophage differentiation and function in AATD individuals
Role: Other
Funding: ALPHA ONE FOU
Oct 2020 ACTIVE
Vertex AAT Steering Committee Agreement
Role: Principal Investigator
Funding: VERTEX PHARMACEUTICALS
Oct 2020 ACTIVE
A Master Protocol Assessing The Safety, Tolerability, And Efficacy of Anti-Spike (S) SARS-COV-2 Monoclonal Antibodies for the Treatment of Hospitalized Patients with COVID-19
Role: Principal Investigator
Funding: REGENERON PHARMACEUTICALS via BIOMEDICAL ADVANCED RES & DEVLPMT AUTHOR
Oct 2020 ACTIVE
Novel biomarkers for alpha 1-antitrypsin mediated liver disease in circulating exosomes
Role: Other
Funding: ALPHA ONE FOU
Jul 2020 – Aug 2020
Takeda Consultant Project Services Agreement (PSA) | US Alpha-1 Medical Advisory Board | Mark Brantly
Role: Principal Investigator
Funding: SHIRE HUMAN GENETIC THERAPIES INC
Jul 2020 ACTIVE
Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease Subcontract
Role: Principal Investigator
Funding: COLUMBIA UNIVERSITY via NATL INST OF HLTH NHLBI
Apr 2020 – Mar 2021
An Adaptive Phase 2/3, Randomized, Double-Blind, Placebo-Controlled Study Assessing Efficacy and Safety of Sarilumab for Hospitalized Patients with COVID-19
Role: Principal Investigator
Funding: REGENERON PHARMACEUTICALS via BIOMEDICAL ADVANCED RES & DEVLPMT AUTHOR
Feb 2020 ACTIVE
Alpha 1 Research Program Kamada 008 Study Task Order #1
Role: Principal Investigator
Funding: KAMADA
Jan 2020 ACTIVE
Alpha-1 Coded Testing (ACT) Study
Role: Principal Investigator
Funding: ALPHA ONE FOU
Oct 2019 ACTIVE
Dicerna Pharmaceuticals Consulting Agreement
Role: Principal Investigator
Funding: DICERNA PHARMACEUTICALS
Oct 2019 ACTIVE
Dicerna A1AT-101 Study
Role: Principal Investigator
Funding: DICERNA PHARMACEUTICALS
Jul 2019 – Oct 2019
Vertex Advisory Board Agreement for AATD Liver Disease Advisory Board July 18, 2019
Role: Principal Investigator
Funding: VERTEX PHARMACEUTICALS
Jul 2019 ACTIVE
Alpha-1 Foundation DNA and Tissue Bank 7/1/2019 to 6/30/2020
Role: Principal Investigator
Funding: ALPHA ONE FOU
Feb 2019 – May 2020
Alpha 1 Liver Biopsy Slides
Role: Principal Investigator
Funding: ARROWHEAD PHARMACEUTICALS
Nov 2018 – Nov 2020
Brantly MD, Mark CAG (AAT Steering Committee)
Role: Principal Investigator
Funding: VERTEX PHARMACEUTICALS
May 2018 – Dec 2019
Kamada Consulting Master Agreement
Role: Principal Investigator
Funding: KAMADA
Feb 2018 – Feb 2019
Vertex Consulting Agreement
Role: Principal Investigator
Funding: VERTEX PHARMACEUTICALS
Jan 2018 ACTIVE
BAL Testing for Inhibrx rhAAT-Fc (INBRX-101)
Role: Principal Investigator
Funding: INHIBRX
Oct 2017 ACTIVE
Adverum AAT Testing (ADVM-043-01)
Role: Principal Investigator
Funding: ADVERUM BIOTECHNOLOGIES INC
Oct 2017 – Sep 2018
Assay Validation Service for Inhibrx Phase 1 Clinical Study of rhAAT-FC (INBRX-101)
Role: Principal Investigator
Funding: INHIBRX
Jul 2017 – Jun 2019
Assessment of Satiety Following Oral Administration of an Erythritol Sweetened Beverage
Role: Principal Investigator
Funding: FL CLINICAL PRACTICE ASSO
Jul 2016 – Jun 2019
Alpha-1 Foundation DNA and Tissue Bank Agreement 2016-2019
Role: Principal Investigator
Funding: ALPHA ONE FOU
Feb 2016 – Oct 2020
Quintiles Independent Contractor Agreement – Protocol 471101 (Quintiles Project Code: JXA36454)
Role: Principal Investigator
Funding: IQVIA
Aug 2015 – Jun 2021
CTSI Institutional Support
Role: Project Manager
Funding: UF DIV OF SPONSORED RES MATCHING FUNDS
Aug 2015 – Jul 2016
Alpha-1 Antirypsin Deficiency: Understanding and
Role: Principal Investigator
Funding: FL CLINICAL PRACTICE ASSO
Jul 2015 – Jun 2019
THE EFFECT OF OBESITY ON IMMUNE RESPONSES IN PNEUMOCOCCALPOLYSACCHARIDE VACCINE
Role: Principal Investigator
Funding: FL CLINICAL PRACTICE ASSO
Jul 2015 – Jan 2017
Alpha-1 Antitrypsin in African Americans and Hispanics
Role: Principal Investigator
Funding: UNIV OF VIRGINIA via ALPHA ONE FOU
Apr 2015 – Jun 2021
Clinical and Translational Science Institute (CTSI)
Role: Project Manager
Funding: UF DIV OF SPONSORED RES MATCHING FUNDS
Oct 2014 – Oct 2017
A Multi-center, Randomized, Double-blind, Crossover Study to Assess the Safety and Pharmacokinetics of Liquid Alpha1-Proteinase Inhibitor (Human) Compared to Prolastin-? C in Subjects with Alpha1-Antitrypsin Deficiency
Role: Principal Investigator
Funding: GRIFOLS WORLDWIDE OPERATIONS LTD
Apr 2014 – Apr 2017
Phase II, double-blind, placebo-controlled study to explore the ELF and plasma concentration as well as safety of Inhaled Alpha-1 Antitrypsin in Alpha-1 Antitrypsin Deficiency subjects
Role: Principal Investigator
Funding: KAMADA
Apr 2014 – Dec 2016
Kamada-inhaled 006 Laboratory Testing Service Agreement
Role: Principal Investigator
Funding: KAMADA
Apr 2014 – Mar 2020
The Role of Conformational Diseases on Macrophage Function
Role: Principal Investigator
Funding: UNIV OF FLORIDA
Mar 2014 – Jul 2016
A Randomized, Double-blind, Placebo-Controlled Study to Assess the Efficacy and Safety of Two Dose Regimens (60 mg/kg and 120 mg/kg) of Weekly Intravenous Alpha1 Proteinase Inhibitor (Human) in Subjects with Pulmonary Emphysema due to Alpha1-Antitrypsin
Role: Principal Investigator
Funding: *GRIFOLS WORLDWIDE OPERATIONS LTD
Jul 2013 – Jun 2016
Alpha-1 Foundation DNA and Tissue Bank 13-16
Role: Principal Investigator
Funding: ALPHA ONE FOU
Apr 2013 ACTIVE
Clinical Predictors and Epigenetic Markers for Liver Fibrosis in Alpha-1 Antitrypsin Deficiency
Role: Principal Investigator
Funding: UNIV OF FLORIDA
Jan 2013 – Dec 2016
Kamada 007-EU Laboratory Testing Service Agreement for A1RP-INST-AAT-007
Role: Principal Investigator
Funding: KAMADA
Jul 2012 – Jun 2016
ACT Program Testing Service Grant Agreement
Role: Principal Investigator
Funding: ALPHA ONE FOU
Jul 2012 – Jun 2016
State of Florida Testing Service Grant Agreement
Role: Principal Investigator
Funding: ALPHA ONE FOU
Jun 2010 – Jan 2020
Alpha-1 Research Program Multiple Sponsors Project
Role: Principal Investigator
Funding: MULTIPLE SPONSORS
May 2010 – Dec 2016
Reference Laboratory for "A Multiple-Site, Phase 2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Alpha-1 Antitrypsin (rAAV1-CB-hAAT) in Patients with Alpha-1 Antitrypsin Deficiency
Role: Principal Investigator
Funding: APPLIED GENETICS TECH CORP
Apr 2004 – Mar 2020
Lung Transplant Research Fund UFF 8263
Role: Principal Investigator
Funding: UF FOU
Oct 2002 – Jun 2020
Alpha One Professorship UFF Fund 7320
Role: Principal Investigator
Funding: UF FOU
Jun 2001 ACTIVE
01040902
Role: Principal Investigator
Funding: GRIFOLS WORLDWIDE OPERATIONS LTD

Patents

Issued May 2013
Compounds and Methods for Treatment of Alpha-1 Antitrypsin Deficiency
#8,436,013

Education

Fellowship – Pulmonary Disease
1986 · National Institutes of Health
Residency – Internal Medicine
1983 · Ghent Family Practice
Residency – Family Medicine
1980 · Ghent Family Practice
Medical Degree
1979 · University of Florida
Bachelor of Science
1976 · Florida State University

Teaching Profile

Courses Taught
2013-2014,2016-2021
GMS6001 Fundamentals of Biomedical Sciences I
2018
GMS7980 Research for Doctoral Dissertation

Contact Details

Phones:
Business:
(352) 273-8740
Emails: