Results 31 to 40 of about 15,504 (206)

Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis. [PDF]

Ann Hum Genet
ABSTRACT Galactosialidosis (GS) is a rare lysosomal storage disease (LSD) with variable onset caused by a defect in protective protein/cathepsin A (PPCA) encoded by the CTSA gene. The late‐infantile onset is characterized by developmental delay, visceromegaly, coarse facies, and cherry‐red macula.
Ngiwsara L, Dhachpramuk D, Sawangareetrakul P, Vongphit S, Pacharn P, Svasti J, Vatanavicharn N.   +6 more
europepmc   +2 more sources

Gangliosidosis gml juvenil como causa de regresión en el neurodesarrollo: reporte de caso

Acta Neurológica Colombiana, 2023
La gangliosidosis GM1 es ocasionada por deficiencia en la actividad catalítica de la enzima lisosomal beta-galacto-sidasa, dando origen a la acumulación del esfingolípido conocido como gangliósido GM1.
Blair Ortiz, Claudia González, Eugenia Espinosa, Johana Guevara, Olga Yanet Echeverri, Luis Barrera   +5 more
doaj   +2 more sources

Quality Control Gone Wrong: Mitochondria, Lysosomal Storage Disorders and Neurodegeneration. [PDF]

, 2013
The eukaryotic cell possesses specialized pathways to turnover and degrade redundant proteins and organelles. Each pathway is unique and responsible for degradation of distinctive cytosolic material.
Duchen, MR, Osellame, LD
core   +1 more source

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Balkan Medical Journal, 2022
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face ...
Halil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, Kısmet Çıkı, Ayşe Burcu Kahraman, İzzet Erdal, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri, Ayşegül Tokatlı   +9 more
doaj   +1 more source

Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients. [PDF]

Front Neuroimaging
Purpose GM1-gangliosidosis (GM1) leads to extensive neurodegenerative changes and atrophy that precludes the use of automated MRI segmentation techniques for generating brain volumetrics.
Zoppo C, Kolstad J, Johnston J, D'Souza P, Kühn AL, Vardar Z, Peker A, Lindsay C, Rentiya ZS, King R, Gray-Edwards H, Vachha B, Acosta MT, Tifft CJ, Shazeeb MS.   +14 more
europepmc   +2 more sources

Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases [PDF]

, 2016
Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native folding and impair the trafficking of enzymes, leading to premature endoplasmic reticulum (ER)-associated degradation, deficiencies of specific hydrolytic functions ...
García-Fernández, José Manuel, Ortiz-Mellet, Carmen, Sánchez-Fernández, Elena M.   +2 more
core   +1 more source

GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots

Indian Journal of Dermatology, 2011
A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis and Mongolian spots. The cutaneous lesions were present at birth before the appearance of the other features of the disease. We postulate that dermal pigmentation may be
Imad Dweikat, Bassam Abu Libdeh, Hanadi Murrar, Samir Khalil, Nizar Maraqa   +4 more
doaj   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders. [PDF]

J Inherit Metab Dis
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.
Lorino M, Qiu B, Bigger B.
europepmc   +2 more sources

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders [PDF]

, 2014
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families.
Armstrong, J., Castiñeiras, D., Castro-Gago, M., Cocho, J., Couce, M., Eiris, J., Fernández-Marmiesse, A., Fraga, J., Gouveia, S., Lacerda, L., Morey, M., Pineda, M., Pérez-Poyato, M.   +12 more
core   +2 more sources

Late-infantile GM1 gangliosidosis

Medicine, 2022
Abstract Rationale: Monosialotetrahexosylganglioside (GM1) gangliosidosis is a rare lysosomal storage disorder caused by the deficiency of ß-galactosidase. Because clinical symptoms of GM1 gangliosidosis overlap with other neurodevelopmental disorders, the diagnosis of this disease is not easy, specifically in late ...
Eu Seon Noh, Hye Mi Park, Min Sun Kim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin   +5 more
openaire   +2 more sources