User profiles for Mark Brantly

Mark Brantly

Professor of Medicine, University of Florida
Verified email at ufl.edu
Cited by 15186

[HTML][HTML] Efficacy and safety of sirolimus in lymphangioleiomyomatosis

…, AF Barker, JT Chapman, ML Brantly… - … England Journal of …, 2011 - Mass Medical Soc
Background Lymphangioleiomyomatosis (LAM) is a progressive, cystic lung disease in
women; it is associated with inappropriate activation of mammalian target of rapamycin (mTOR) …

Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I

K Overturf, M Al-Dhalimy, R Tanguay, M Brantly… - Nature …, 1996 - nature.com
Current strategies for hepatic gene therapy are either quantitatively inefficient or suffer from
lack of permanent gene expression. We have utilized an animal model of hereditary …

Molecular basis of alpha-1-antitrypsin deficiency

M Brantly, T Nukiwa, RG Crystal - The American journal of medicine, 1988 - Elsevier
Alpha-1-antitrypsin (A1AT) deficiency is an autosomal hereditary disorder associated with a
major reduction in serum A1AT levels. Clinically, A1AT deficiency is associated with …

Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms

ML Brantly, LD Paul, BH Miller, RT Falk, M Wu… - Am Rev Respir …, 1988 - atsjournals.org
Alpha-1-antitrypsin (a1AT) deficiency is a hereditary disorder characterized in adults by a
high risk for the development of severe destructive lung disease at an early age. The present …

Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy

ML Brantly, JD Chulay, L Wang… - Proceedings of the …, 2009 - National Acad Sciences
Alpha-1 antitrypsin (AAT) deficiency is well-suited as a target for human gene transfer. We
performed a phase 1, open-label, dose-escalation clinical trial of a recombinant adeno-…

Phase 2 Clinical Trial of a Recombinant Adeno-Associated Viral Vector Expressing α1-Antitrypsin: Interim Results

…, C Mueller, LM Messina, JM Wilson, M Brantly… - Human gene …, 2011 - liebertpub.com
Recombinant adeno-associated virus (rAAV) vectors offer promise for the gene therapy of α
1 -antitrypsin (AAT) deficiency. In our prior trial, an rAAV vector expressing human AAT (…

American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency.

JK Stoller, GL Snider, ML Brantly, RJ Fallat… - American Journal of …, 2003 - iris.unipv.it
Since the first American Thoracic Society statement regarding the diagnosis and management
of severe alpha-1 antitrypsin (AAT) deficiency in 1989 (1) and the initial Canadian …

Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors

…, K Chesnut, J Wang, M Brantly… - Proceedings of the …, 1998 - National Acad Sciences
Recombinant adeno-associated virus (AAV) vectors have been used to transduce murine
skeletal muscle as a platform for secretion of therapeutic proteins. The utility of this approach …

[HTML][HTML] Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky–Pudlak syndrome)

WA Gahl, M Brantly, MI Kaiser-Kupfer… - … England Journal of …, 1998 - Mass Medical Soc
Background Hermansky–Pudlak syndrome is characterized by oculocutaneous albinism, a
storage-pool deficiency, and lysosomal accumulation of ceroid lipofuscin, which causes …

α1-Antitrypsin deficiency

…, J Teckman, I Ferrarotti, ML Brantly… - Nature reviews Disease …, 2016 - nature.com
α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in
SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes …