Results 1 to 10 of about 2,912 (167)

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction. [PDF]

PLoS Biology
Glycosphingolipids (GSL) are important bioactive membrane components. GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside
Alex S Nicholson, David A Priestman, Robin Antrobus, James C Williamson, Reuben Bush, Shannon J McKie, Henry G Barrow, Emily Smith, Kostantin Dobrenis, Nicholas A Bright, Frances M Platt, Janet E Deane   +11 more
doaj   +18 more sources

The diagnostic journey for patients with late-onset GM2 Gangliosidoses [PDF]

Molecular Genetics and Metabolism Reports, 2023
Late-onset forms of GM2 gangliosidosis―mainly, Tay-Sachs disease and Sandhoff disease―are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2 ...
Mariah C. Lopshire, Cynthia Tifft, John Burns, Rebecca Gould, Riliang Zheng, Isabela Batsu   +5 more
doaj   +4 more sources

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis [PDF]

Clinical and Translational Science
GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β ...
Sydney Stern, Karryn Crisamore, Ruo‐Jing Li, Michael Pacanowski, Robert Schuck   +4 more
doaj   +3 more sources

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) [PDF]

Orphanet Journal of Rare Diseases
Background The GM1 and GM2 gangliosidoses and type 2 Gaucher disease (GD2) are inherited lysosomal storage disorders with most cases having symptom onset in infancy and reduced life expectancy.
Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach   +9 more
doaj   +5 more sources

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study [PDF]

Orphanet Journal of Rare Diseases
Background GM1 and GM2 (Tay–Sachs and Sandhoff diseases) gangliosidoses are rare, autosomal recessive, potentially life-threatening, disabling disorders characterized by progressive neurodegeneration, with no disease-modifying treatment. This qualitative
Maria Belen Rodriguez, Ruth Pulikottil-Jacob, Karli Heuer, Nancy Gabriela Perez, Christine Waggoner, Diana Jussila, Chad Gwaltney, Robert Krupnick, Daisy Ng-Mak   +8 more
doaj   +2 more sources

Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype. [PDF]

J Peripher Nerv Syst
ABSTRACT Background Late‐onset Tay–Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, including lower motor neuron phenotypes.
Frezatti RSS, Gonçalves TAP, de Albuquerque Bueno MG, Dos Santos ACJ, Wilson LA, Dominik N, Hanna MG, Morrow J, Rossor AM, Reilly MM, Tomaselli PJ, Marques W.   +11 more
europepmc   +2 more sources

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

AAV-based gene therapy with modified HEXB confers lasting therapeutic benefits in GM2 gangliosidosis models [PDF]

Cell Reports Medicine
Summary: GM2 gangliosidoses, including Tay-Sachs (TSD) and Sandhoff (SD) diseases, are lysosomal storage disorders with neurological manifestations caused by the excessive accumulation of GM2 ganglioside due to the deficiency of the β-hexosaminidase A ...
Keisuke Kitakaze, Yukiya Ohnishi, Daisuke Tsuji, Ryosuke Watanabe, Nijiho Kamori, Yuko Katakai, Hiroaki Shibata, Sota Yoshizawa, Mika Ito, Naomi Takino, Shin-ichi Muramatsu, Kohji Itoh   +11 more
doaj   +2 more sources

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease? [PDF]

JIMD Rep
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Fiori L, Turzi M, Tagi VM, Asnaghi L, Bonaventura E, Tonduti D, Spaccini L, Saielli LA, Montanari C, Cairello F, Mannarino S, Ferrario M, Del Longo A, Napolitano M, Righini A, Semeraro M, Venerando A, Miceli M, Verduci E, Zuccotti G.   +19 more
europepmc   +2 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +2 more sources