Results 21 to 30 of about 1,666 (186)
CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors [PDF]
International Journal of Molecular Sciences, 2022 Andres Felipe Leal +2 more
exaly +2 more sources
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. [PDF]
J Inherit Metab DisABSTRACT 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 ...
Hiwot T +33 more
europepmc +2 more sources
White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy
Frontiers in Cellular Neuroscience, 2021 The gangliosidoses are a family of neurodegenerative lysosomal storage diseases that have recently seen promising advances in gene therapy. White matter deficits are well established components of gangliosidosis pathology that are now receiving more ...
Anne S. Maguire +3 more
doaj +1 more source
Biochemistry and genetics of gangliosidoses [PDF]
Human Genetics, 1979 The gangliosidoses comprise an-ever increasing number of biochemically and phenotypically variant diseases. In most of them an autosomal recessive inherited deficiency of a lysosomal hydrolase results in the fatal accumulation of glucolipids (predominantly in the nervous tissue) and of oligosaccharides.
K, Sandhoff, H, Christomanou
openaire +2 more sources
Thymic alterations in GM2 gangliosidoses model mice. [PDF]
PLoS ONE, 2010 BACKGROUND: Sandhoff disease is a lysosomal storage disorder characterized by the absence of β-hexosaminidase and storage of GM2 ganglioside and related glycolipids.
Seiichi Kanzaki +12 more
doaj +1 more source
Critical role of iron in the pathogenesis of the murine gangliosidoses
Neurobiology of Disease, 2009 Neurodegeneration is a prominent feature of the gangliosidoses, a group of lysosomal storage diseases. Here we show altered iron homeostasis in mouse models of both GM1 and GM2 gangliosidoses, which are characterized by progressive depletion of iron in ...
Mylvaganam Jeyakumar +4 more
doaj +1 more source
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation
Cells, 2021 Aims: Tay–Sachs and Sandhoff diseases (GM2 gangliosidosis) are autosomal recessive disorders of lysosomal function that cause progressive neurodegeneration in infants and young children. Impaired hydrolysis catalysed by β-hexosaminidase A (HexA) leads to
Beatriz Castejón-Vega +11 more
doaj +1 more source
Journal of Neurochemistry, Volume 166, Issue 3, Page 481-496, August 2023., 2023 Peripherally accessible biomarkers are urgently required to provide a prognosis for children with pre‐symptomatic Sanfilippo syndrome, enabling early trial/treatment access and optimal outcomes. Furthermore, clinical trials require biomarkers to better stratify patients into treatment groups and measure neurocognitive outcomes.
Leanne K. Winner +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 408-423, February 2023., 2023 Abstract GM1‐gangliosidosis (GM1) is a rare neurodegenerative disorder leading to early mortality and causing progressive decline of physical skills and cerebral functioning. No approved treatment for GM1 exists. In this study—the first to explore priorities of parents of subjects with pediatric onset forms of GM1—we address a crucial gap by ...
Amanda Bingaman +10 more
wiley +1 more source