Results 21 to 30 of about 6,608 (209)

Characterization of inducible models of Tay-Sachs and related disease. [PDF]

PLoS Genetics, 2012
Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system.
Timothy J Sargeant, Deborah J Drage, Susan Wang, Apostolos A Apostolakis, Timothy M Cox, M Begoña Cachón-González   +5 more
doaj   +1 more source

Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses

Clinical Case Reports, 2020
Sandhoff disease is one of the GM2‐gangliosidoses which is caused by a mutation in the HEXB preventing the breakdown of GM2‐ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not found in
Fatemeh Mansouri‐Movahed, Fatemeh Akhoundi, Parvaneh Nikpour, Masoud Garshasbi, Modjtaba Emadi‐Baygi   +4 more
doaj   +1 more source

Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease. [PDF]

PLoS ONE, 2011
The neuropathic glycosphingolipidoses are a subgroup of lysosomal storage disorders for which there are no effective therapies. A potential approach is substrate reduction therapy using inhibitors of glucosylceramide synthase (GCS) to decrease the ...
Karen M Ashe, Dinesh Bangari, Lingyun Li, Mario A Cabrera-Salazar, Scott D Bercury, Jennifer B Nietupski, Christopher G F Cooper, Johannes M F G Aerts, Edward R Lee, Diane P Copeland, Seng H Cheng, Ronald K Scheule, John Marshall   +12 more
doaj   +1 more source

Microcephaly in infantile Sandhoff's disease [PDF]

BMJ Case Reports, 2017
We evaluated a boy aged 16 months with developmental arrest at the age of 6 months followed by neuroregression and recurrent generalised seizures. Perinatal and family history was not contributory. He was first born to non-consanguineous parents by term, uncomplicated vaginal delivery and weighed 2.8 kg at birth.
Kaushik, Maulik, Santhosh, Kumar, Paramjeet, Singh, Arushi Gahlot, Saini   +3 more
openaire   +2 more sources

Functionality of a bicistronic construction containing HEXA and HEXB genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses

Neural Regeneration Research, 2022
Tay-Sachs disease and Sandhoff disease are severe hereditary neurodegenerative disorders caused by a deficiency of β-hexosaminidase A (HexA) enzyme, which results in the accumulation of GM2 gangliosides in the nervous system cells.
Alisa A Shaimardanova, Daria S Chulpanova, Valeriya V Solovyeva, Aleksandr M Aimaletdinov, Albert A Rizvanov   +4 more
doaj   +1 more source

A single site in human β-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside [PDF]

, 2003
Human β-hexosaminidase A (Hex A) (αβ) is composed of two subunits whose primary structures are ∼60% identical. Deficiency of either subunit results in severe neurological disease due to the storage of GM2 ganglioside; Tay–Sachs disease, α deficiency, and
Abbink, E.J., Beulens, J.W., Dekker, J.M., Dekkers, O.M., DeVries, J.H., Diabet Pearl Parelsnoer Initiative, Elders, P.J.M., Holleman, F., Nijpels, G., Ozcan, B., Pijl, H., Rauh, S.P., Rutte, A., Rutters, F., Schaper, N.C., Schram, M.T., Sijbrands, E.J.G., Silvius, B., Stehouwer, C.D.A., Tack, C.J., Valk, H.W. de, Wolffenbuttel, B.H.R.   +21 more
core   +16 more sources

Infantile Sandhoff's disease

South African Journal of Radiology, 2009
Case based review of the rare autosomal recessive disease. Clinical and Radiological features described in detail.
K Sass, S Wiebe, E Lemire
openaire   +4 more sources

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

Murine Models of Lysosomal Storage Diseases Exhibit Differences in Brain Protein Aggregation and Neuroinflammation

Biomedicines, 2021
Genetic, epidemiological and experimental evidence implicate lysosomal dysfunction in Parkinson’s disease (PD) and related synucleinopathies. Investigate several mouse models of lysosomal storage diseases (LSDs) and evaluate pathologies reminiscent of ...
Jennifer Clarke, Can Kayatekin, Catherine Viel, Lamya Shihabuddin, Sergio Pablo Sardi   +4 more
doaj   +1 more source

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis. [PDF]

J Inherit Metab Dis
ABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Landskroner K, Singh K, Mitchell M, Walia JS.   +3 more
europepmc   +2 more sources