Results 41 to 50 of about 2,912 (144)

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling

Molecular Genetics and Metabolism Reports, 2019
Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides.
Li Ou, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz   +3 more
doaj   +1 more source

Overcoming Toxicity from Transgene Overexpression Through Vector Design in AAV Gene Therapy for GM2 Gangliosidoses [PDF]

, 2017
GM2 gangliosidoses are a family of lysosomal storage disorders that include both Tay-Sachs and Sandhoff diseases. These disorders result from deficiencies in the lysosomal enzyme β-N-acetylhexosaminidase (HexA).
Golebiowski, Diane L.
core   +1 more source

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

Orphanet Journal of Rare Diseases, 2020
Background The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectively.
Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer, Alaa Hamed   +9 more
doaj   +1 more source

A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB [PDF]

, 1991
GM2-gangliosidoses are neurological disorders caused by a genetic deficiency of either the β-hexosaminidase A or the GM2 activator, a glycolipid binding protein.
Sandhoff, Konrad, Doris Schnabel, Schnabel, Doris, Konrad Sandhoff, Kunihiko Suzuki, Suzuki, Kunihiko, Schröder, Maria, Maria Schröder   +7 more
core   +1 more source

Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind

Frontiers in Molecular Biosciences, 2020
The brain is the physical organ of the mind but efforts to understand mental illness within a neurobiological context have hitherto been unavailing. Mental disorders (anxiety, depression, bipolar disorder, and schizophrenia) affect about one fifth of the
Timothy M. Cox
doaj   +1 more source

Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis

, 2023
GM2 gangliosidoses are a group of neurodegenerative lysosomal storage disorders that are characterized by the accumulation of GM2 gangliosides (GM2), leading to rapid neurological decline and death.
Deschenes, Natalie M, Steven J. Gray, Vyas, Meera, Zhilin Chen, Kot, Shalini, Ahmad, Imtiaz, Karlaina J. L. Osmon, Imtiaz Ahmad, Gray, Steven J, Walia, Jagdeep S, Jagdeep S. Walia, Osmon, Karlaina JL, Richmond, Chris, Shalini Kot, Thompson, Patrick, Natalie M. Deschenes, Patrick Thompson, Chen, Zhilin, Chris Richmond, Meera Vyas   +19 more
core   +1 more source

Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses [PDF]

Gangliosides are crucial components on the outer leaflet of the plasma membrane of many cells, especially neurons. Their functions are broad and varied but their high abundance in neurons leaves these cells especially vulnerable to the effects of their ...

core   +2 more sources

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Integrative genomic and functional analyses reveal NINL as a modulator of tau aggregation

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION Proteostasis dysfunction is a hallmark of frontotemporal dementia (FTD) and Alzheimer's disease (AD), yet the genetic and molecular pathways that disrupt protein homeostasis remain poorly understood. METHODS We integrated human genetics, transcriptomics, and functional studies to identify proteostasis network components involved ...
Samantha K. Swift, Guangming Huang, J. Nicholas Cochran, Ricardo D'Oliveira Albanus, Miguel A. Minaya, Patricia A. Castruita, Rui Zhang, Katherine J. Miller, Emma Starr, Grant Galasso, Jacob A. Marsh, Aimee W. Kao, Oscar Harari, Jennifer S. Yokoyama, Celeste M. Karch   +14 more
wiley   +1 more source

An Inducible Mouse Model of Late Onset Tay–Sachs Disease

Neurobiology of Disease, 2002
Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Mylvaganam Jeyakumar, David Smith, Elena Eliott-Smith, Mario Cortina-Borja, Gabriele Reinkensmeier, Terry D. Butters, Thorsten Lemm, Konrad Sandhoff, V.Hugh Perry, Raymond A. Dwek, Frances M. Platt   +10 more
doaj   +1 more source