Results 71 to 80 of about 4,924 (178)

Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts

Journal of Lipid Research, 1998
The degradation of blood group glycolipid A-6-2 (GalNAc(α1→3)[Fucα1→2]Gal(β1→4)GlcNAc(β1→3)Gal (β1→4)Glc(β1→1′)Cer, IV2-α-fucosyl-IV3-α-N-acetylgalactosaminylneolactotetraosylceramide), tritium-labeled in its ceramide moiety, was studied in situ, in skin
Befekadu Asfaw, Detlev Schindler, Jana Ledvinová, Bohuslav Černý, František Šmíd, Ernst Conzelmann   +5 more
doaj   +1 more source

Neuroradiological findings in GM2 gangliosidosis variant B1

Journal of Pediatric Neurosciences, 2011
GM2 gangliosidosis variant B1 is a very rare lysosomal disorder. As per our knowledge, to date, only one article depicting the magnetic resonance imaging (MRI) findings of GM2 gangliosidosis variant B1 is available in the literature. We are the first to describe the neuroradiological findings in an Indian patient diagnosed with GM2 gangliosidosis ...
Bano, Shahina, Prasad, Akhila, Yadav, Sachchida Nand, Chaudhary, Vikas, Garga, Umesh Chandra   +4 more
openaire   +2 more sources

Gene and RNA Editing: Revolutionary Approaches to Treating Diseases

MedComm, Volume 6, Issue 10, October 2025.
The image illustrates gene editing technologies: DNA editing using CRISPR–Cas9 and RNA editing via Cas13d, with their clinical applications and ethical risks. DNA editing allows precise gene modifications for conditions like amyotrophic lateral sclerosis [ALS] and Huntington's disease, while RNA editing supports multiplexed modifications.
Jia‐Mei Li, Jie Huang, Yan Liao, Ting Hu, Chang‐Li Wang, Wang‐Zheqi Zhang, Chen‐Wei Huang   +6 more
wiley   +1 more source

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

, 1996
Late-onset GM2 gangliosidosis is a variant form of Tay-Sachs disease characterized by onset of symptoms and signs in adolescence or in early adult life.
KOLODNY E. H., LESHINSKY E., BATTISTINI S., ZELNIK N., YERETSIAN J., DE GASPERI R., RAGHAVAN S., GAMA SOSA M. A.   +7 more
core   +1 more source

GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases

Molecular Genetics and Metabolism Reports
GM2 activator deficiency (AB variant of GM2 gangliosidosis) is an ultra-rare autosomal recessive lysosomal storage disorder caused by pathogenic GM2A mutations.
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş   +3 more
doaj   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

GM2-gangliosidosis, AB variant

, 2015
GM2-gangliosidosis, AB variant is a rare form of GM2-gangliosidosis due to a deficiency of GM2 activator protein. This autosomal recessive disorder is caused by mutations in GM2A that can only be confirmed by molecular ...
Michael C. Brodsky; Deborah L. Renaud
core  

A Prevalent Form of Infantile GM2 Gangliosidosis in Lebanon

, 2016
All cases clinically diagnosed as Tay-Sachs disease at the American University Hospital, Beirut, during a period of 22 years (1957--1979) were reviewed. Of a total of 15 cases, seven had serum hexosaminidase tested and proved to have Sandhoff disease. In
Idriss, Ziad H., Khoury, Muin J., Deeb, Mary E., Hallal, Ruwayda, Der Kaloustian, Vazken M., Haddad, Fuad S., Wakid, Nabil W.   +6 more
core   +1 more source

Mutation in GM2A Leads to a Progressive Chorea-Dementia Syndrome

Tremor and Other Hyperkinetic Movements, 2015
Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.
Mustafa A. Salih, Mohammed Z. Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Thomas M. Bosley, Sabrina Burn, Angela Myers, Megan L. Landsverk, Patricia L. Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C. Kruer   +11 more
doaj   +1 more source

Language impairment is associated with faster progression in progressive supranuclear palsy‐Richardson syndrome

Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.
Abstract INTRODUCTION Cognitive impairment is common but often overlooked due to motor symptoms in progressive supranuclear palsy‐Richardson syndrome (PSP‐RS). This study investigates whether cognitive deficits predict disease progression in PSP‐RS. METHODS A total of 146 PSP‐RS from the Tilavonemab trial were evaluated at baseline and over 52 weeks ...
Indira Garcia‐Cordero, Juan Camilo Vargas‐Gonzalez, Mohsen Hadian, Ece Bayram, Federico Rodriguez‐Porcel, Blas Couto, Jay Iyer, Lawrence I. Golbe, Christopher D. Stephen, Alexander Pantelyat, Marian L. Dale, Nikolaus McFarland, Tao Xie, Matthew Swan, Kyurim Kang, Douglas Gunzler, Anne‐Marie Wills, Adam Boxer, Irene Litvan, Anthony Lang, Maria Carmela Tartaglia   +20 more
wiley   +1 more source