Results 31 to 40 of about 5,278 (187)

CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors

International Journal of Molecular Sciences, 2022
The gangliosidoses GM2 are a group of pathologies mainly affecting the central nervous system due to the impaired GM2 ganglioside degradation inside the lysosome. Under physiological conditions, GM2 ganglioside is catabolized by the β-hexosaminidase A in
A. Leal, Javier Cifuentes, V. Quezada, Eliana Benincore-Flórez, J. C. Cruz, L. H. Reyes, A. Espejo-Mojica, C. Alméciga-Díaz   +7 more
semanticscholar   +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   +8 more sources

Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood‐onset dementia

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, Mary‐Louise Rogers, Marten F. Snel, Kim M. Hemsley   +3 more
wiley   +1 more source

GM1‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat

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, Christine Waggoner, Sara M. Andrews, Diana Pangonis, Marie Trad, Roberto Giugliani, Ruben Giorgino, Jeanine Jarnes, Rojan Vakili, Victoria Ballard, Holly L. Peay   +10 more
wiley   +1 more source

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source

Late-onset Tay-Sachs disease [PDF]

, 2017
We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of ...
Andrew W Barritt, Basil H Ridha, Bocchetta, Chen, Cooper-Knock, Elstein, Frey, Ghasemi, MacQueen, Neudorfer, Neudorfer, Osher, P Nigel Leigh, Shapiro, Stryer, Stuart J Anderson, Suzuki, Turner, Zaroff   +18 more
core   +1 more source

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia, Volume 63, Issue 6, Page 1443-1474, June 2022., 2022
Abstract The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age of onset, based on expert consensus of the International League Against Epilepsy Nosology and Definitions Taskforce (2017–2021).
Kate Riney, Alicia Bogacz, Ernest Somerville, Edouard Hirsch, Rima Nabbout, Ingrid E. Scheffer, Sameer M. Zuberi, Taoufik Alsaadi, Satish Jain, Jacqueline French, Nicola Specchio, Eugen Trinka, Samuel Wiebe, Stéphane Auvin, Leonor Cabral‐Lim, Ansuya Naidoo, Emilio Perucca, Solomon L. Moshé, Elaine C. Wirrell, Paolo Tinuper   +19 more
wiley   +1 more source

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

PLoS ONE, 2013
Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa, Shinji Tamura, Yuya Nakamoto, Naoaki Matsuki, Kimimasa Takahashi, Michio Fujita, Kazuyuki Uchida, Osamu Yamato   +7 more
doaj   +1 more source

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

Molecular Genetics &Genomic Medicine, Volume 9, Issue 6, June 2021., 2021
We present three independent Korean children with typical clinical manifestations and neurodevelopmental regression at around 8 months of age, who were biochemically and molecularly confirmed as an infantile form of TSD. Fundus examination can be helpful for early diagnosis of children with neurodevelopmental regression.
Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae   +7 more
wiley   +1 more source

Assessment of Target Engagement in a First‐in‐Human Trial with Sinbaglustat, an Iminosugar to Treat Lysosomal Storage Disorders

Clinical and Translational Science, Volume 14, Issue 2, Page 558-567, March 2021., 2021
In this first‐in‐human study, the tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of single and multiple oral doses of sinbaglustat, a dual inhibitor of glucosylceramide synthase (GCS) and non‐lysosomal glucosyl ceramidase (GBA2), were investigated in healthy subjects.
Martine Gehin, Meggane Melchior, Richard W.D. Welford, Patricia N. Sidharta, Jasper Dingemanse   +4 more
wiley   +1 more source