Results 61 to 70 of about 3,309 (181)

Biochemical characterization of the GM2 gangliosidosis B1 variant

Brazilian Journal of Medical and Biological Research, 2004
The deficiency of the A isoenzyme of ß-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of the absence of Hex A ...
J.C. Tutor
doaj   +1 more source

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

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

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

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

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)

Journal of Lipid Research, 1967
The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis).Gray matter of patients with each disease showed a characteristic ...
Kunihiko Suzuki, Gloria C. Chen
doaj   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature [PDF]

, 2012
This is a case report of late onset Tay-Sachs Disease diagnosed in a 14-year-old male non-Jewish adolescent who presented in a psychotic and catatonic state. The objective is to emphasize that Tay-Sachs disease can present with psychiatric symptoms, with
Saleh, Osama, M.D.
core   +1 more source

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

Mutation in GM2A Leads to a Progressive Chorea-Dementia Syndrome [PDF]

, 2006
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.
Salih, Mustafa A., Seidahmed, Mohammed Z., El Khashab, Heba Y., Hamad, Muddathir H. A., Bosley, Thomas M., Burn, Sabrina, Myers, Angela, Landsverk, Megan L., Crotwell, Patricia L., Bilguvar, Kaya, Mane, Shrikant, Kruer, Michael C.   +11 more
core   +5 more sources