Zobrazeno 1 - 10
of 800
pro vyhledávání: '"H Gelb"'
Autor:
Nicole R. Kelly, Joseph J. Orsini, Aaron J. Goldenberg, Niamh S. Mulrooney, Natalie A. Boychuk, Megan J. Clarke, Katrina Paleologos, Monica M. Martin, Hannah McNeight, Michele Caggana, Sean M. Bailey, Lisa R. Eiland, Jaya Ganesh, Gabriel Kupchik, Rishi Lumba, Suhas Nafday, Annemarie Stroustrup, Michael H. Gelb, Melissa P. Wasserstein
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101037- (2024)
The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a
Externí odkaz:
https://doaj.org/article/e79789f150374a1baa1c0b21fce96ad8
Autor:
Valerie B. O’Donnell, Nils H. Schebb, Ginger L. Milne, Michael P. Murphy, Christopher P. Thomas, Dieter Steinhilber, Stacy L. Gelhaus, Hartmut Kühn, Michael H. Gelb, Per-Johan Jakobsson, Ian A. Blair, Robert C. Murphy, Bruce A. Freeman, Alan R. Brash, Garret A. FitzGerald
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-5 (2023)
Externí odkaz:
https://doaj.org/article/be32bdf8db4a483a9d4567d68f0e996c
Autor:
Marena Trinidad, Xinying Hong, Steven Froelich, Jessica Daiker, James Sacco, Hong Phuc Nguyen, Madelynn Campagna, Dean Suhr, Teryn Suhr, Jonathan H. LeBowitz, Michael H. Gelb, Wyatt T. Clark
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-35 (2023)
Abstract Background Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes according to age of onset. The functional effect of most ARSA mutants re
Externí odkaz:
https://doaj.org/article/4606464433f9464689ed0c85be47519b
Autor:
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-21 (2023)
Abstract Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine‐generating enzyme (FGE). FGE is essential for the posttranslational activation of cellular
Externí odkaz:
https://doaj.org/article/b678e69f8129428e87e0aebc0aa61cd4
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100978- (2023)
Mucolipidosis type II and III (MLII/III) is caused by defects in the mannose-6-phosphate system, which is essential to target most of the lysosomal hydrolases to the lysosome. MLII/III patients present with marked elevations in the activities of most
Externí odkaz:
https://doaj.org/article/f8d8131cceb34bbabd6f04c30932cba0
Autor:
Sarah L. Stenton, Madelynn Campagna, Anthony Philippakis, Anne O'Donnell-Luria, Michael H. Gelb
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100821- (2023)
There is discussion of expanding newborn screening (NBS) through the use of genomic sequence data; yet, challenges remain in the interpretation of DNA variants. Population-level DNA variant databases are available, and it is possible to estimate the
Externí odkaz:
https://doaj.org/article/15a9bece71664137bcba8d2a90f3b345
Autor:
Andreas Rimner, MD, Prasad S. Adusumilli, MD, Michael D. Offin, MD, Stephen B. Solomon, MD, Etay Ziv, MD, Sara A. Hayes, MD, Michelle S. Ginsberg, MD, Jennifer L. Sauter, MD, Daphna Y. Gelblum, MD, Annemarie F. Shepherd, MD, David M. Guttmann, MD, Jordan E. Eichholz, MS, Zhigang Zhang, PhD, Erika Ritter, BS, Phillip Wong, PhD, Afsheen N. Iqbal, MD, Robert M. Daly, MD, Azadeh Namakydoust, MD, Henry Li, BS, Megan McCune, BS, Emily H. Gelb, BS, Neil K. Taunk, MD, Donata von Reibnitz, MD, Neelam Tyagi, PhD, Ellen D. Yorke, PhD, Valerie W. Rusch, MD, Marjorie G. Zauderer, MD
Publikováno v:
JTO Clinical and Research Reports, Vol 4, Iss 1, Pp 100440- (2023)
Introduction: Single-agent monoclonal antibody therapy against programmed death-ligand 1 (PD-L1) has modest effects in malignant pleural mesothelioma. Radiation therapy can enhance the antitumor effects of immunotherapy. Nevertheless, the safety of c
Externí odkaz:
https://doaj.org/article/8350f1d8ba0d4d41ad97457d20805a67
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100935- (2022)
Background: Lysosomal acid lipase deficiency (LAL-D) is a phenotypic continuum between the severe Wolman disease and the attenuated cholesteryl ester storage disease (CESD). Objective: To study if the amount of residual LAL enzymatic activity in drie
Externí odkaz:
https://doaj.org/article/d32dd42504884efc99ba26e93fdb0fa5
Autor:
Diego Iacono, Shunsuke Koga, Hui Peng, Arulmani Manavalan, Jessica Daiker, Monica Castanedes-Casey, Nicholas B. Martin, Aimee R. Herdt, Michael H. Gelb, Dennis W. Dickson, Chris W. Lee
Publikováno v:
Neurobiology of Disease, Vol 174, Iss , Pp 105862- (2022)
Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes lysosomal enzyme galactosylceramidase (GALC). Functional deficiency of GALC is toxic to myelin-producing cells, which
Externí odkaz:
https://doaj.org/article/d4cc186bc60040409a03f88f4dcd82c3
Autor:
Conlan Kreher, Jacob Favret, Nadav I Weinstock, Malabika Maulik, Xinying Hong, Michael H Gelb, Lawrence Wrabetz, M Laura Feltri, Daesung Shin
Publikováno v:
PLoS Biology, Vol 20, Iss 7, p e3001661 (2022)
Krabbe disease is caused by a deficiency of the lysosomal galactosylceramidase (GALC) enzyme, which results in the accumulation of galactosylceramide (GalCer) and psychosine. In Krabbe disease, the brunt of demyelination and neurodegeneration is beli
Externí odkaz:
https://doaj.org/article/2999db1d8c164061bec0497b5f1faec5