Results 41 to 50 of about 15,504 (206)

GM1 - gangliosidosis in a Nigerian infant: A case report

Nigerian Journal of Paediatrics, 2021
Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta galactosidase (GLB11) resulting in
Abdullahi M Sakina, Idris W Hafsat Hafsat, Sadiku A Halima, Abubakar El - ishaq   +3 more
doaj  

Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain

Journal of Lipid Research, 2011
Filipin is an antibiotic polyene widely used as a histochemical marker for cholesterol. We previously reported cholesterol/filipin-positive staining in brain of β-galactosidase (β-gal) knockout (−/−) mice (GM1 gangliosidosis).
Julian R. Arthur, Karie A. Heinecke, Thomas N. Seyfried   +2 more
doaj   +1 more source

GM1-Gangliosidosis Type III Associated Parkinsonism [PDF]

, 2021
GLB1 encodes beta-galactosidase-1, a lysosomal hydrolase that cleaves the terminal beta-galactose from ganglioside substrates. Biallelic variants in GLB1 cause beta-galactosidase deficiency leading to GM1 gangliosidosis.1 Type III GM1 gangliosidosis ...
Allahyarova, Parvin, Ferla, Matteo P, Gulieva, Sughra, Guliyeva, Ulviyya, Houlden, Henry, Kaiyrzhanov, Rauan, Mursalova, Aytan, Salayev, Kamran   +7 more
core  

Carrier Rate and Mutant Allele Frequency of GM1 Gangliosidosis in Miniature Shiba Inus (Mame Shiba): Population Screening of Breeding Dogs in Japan

Animals, 2022
GM1 gangliosidosis is a progressive, recessive, autosomal, neurodegenerative, lysosomal storage disorder that affects the brain and multiple systemic organs due to an acid β-galactosidase deficiency encoded by the GLB1 gene.
Shahnaj Pervin, Md Shafiqul Islam, Yamato Yorisada, Aya Sakai, Shimma Masamune, Akira Yabuki, Tofazzal Md Rakib, Shinichiro Maki, Martia Rani Tacharina, Osamu Yamato   +9 more
doaj   +1 more source

Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model. [PDF]

Int J Mol Sci
GM1 gangliosidosis is a lysosomal storage disorder characterized by the accumulation of GM1 ganglioside, leading to severe neurodegeneration and early mortality.
Liu S, Xie T, Huang Y.
europepmc   +2 more sources

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +2 more sources

Autophagy in Lysosomal Storage Disorders [PDF]

, 2012
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis ...
Ballabio, Andrea, Lieberman, Andrew P., Puertollano, Rosa, Raben, Nina, Slaugenhaupt, Susan Ann, Walkley, Steven U.   +5 more
core   +1 more source

GM1 gangliosidosis: Case report

Medicinski pregled, 2010
Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions.
Slobodan Obradovic, Olivera Laban, Zoran Igrutinovic, Biljana Vuletic, Ana Vujic, Jasmina Djindjic   +5 more
openaire   +3 more sources

NCLs and ER: A stressful relationship. [PDF]

, 2017
The Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are a group of inherited neurodegenerative disorders with variable age of onset, characterized by the lysosomal accumulation of autofluorescent ceroid lipopigments.
Marotta, D, Mole, SE, Tinelli, E
core   +1 more source

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source