Results 11 to 20 of about 9,234 (203)

GM1 - gangliosidosis in a Nigerian infant: A case report [PDF]

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   +2 more sources

Preclinical Enzyme Replacement Therapy with a Recombinant β-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis

Cells, 2022
GM1-gangliosidosis is a catastrophic, neurodegenerative lysosomal storage disease caused by a deficiency of lysosomal β-galactosidase (β-Gal). The primary substrate of the enzyme is GM1-ganglioside (GM1), a sialylated glycosphingolipid abundant in ...
Jason Andrew Weesner, Ida Annunziata, Tianhong Yang, Walter Acosta, Elida Gomero, Huimin Hu, Diantha van de Vlekkert, Jorge Ayala, Xiaohui Qiu, Leigh Ellen Fremuth, David N. Radin, Carole L. Cramer, Alessandra d’Azzo   +12 more
doaj   +2 more sources

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   +2 more sources

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   +2 more sources

Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation

Stem Cell Research
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by defects in the beta-galactosidase (GLB1) gene, which results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling,
Jingyun Guan, Chunhong Duan, Yuqiang Lv, Haiyan Zhang, Guohua Liu, Yi Liu   +5 more
doaj   +2 more sources

Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis [PDF]

Molecular Genetics and Metabolism Reports
GLB1-related disorders are autosomal recessive lysosomal diseases caused by enzymatic deficiency of β-galactosidase. Enzymatic deficiency of β-galactosidase may lead to one of two phenotypes, GM1 gangliosidosis or mucopolysaccharidosis IVB (MPS IVB). GM1
Iskren Menkovic, Monika Williams, Neelam Makhijani, Ruhan Wei, Sarah P. Young, Areeg El-Gharbawy, Ashlee R. Stiles   +6 more
doaj   +2 more sources

A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis [PDF]

NeuroSci
Background: Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression and neurodevelopment. Fully automated segmentation pipelines offer faster and more reproducible
Connor J. Lewis, Jean M. Johnston, Precilla D’Souza, Josephine Kolstad, Christopher Zoppo, Zeynep Vardar, Anna Luisa Kühn, Ahmet Peker, Zubir S. Rentiya, Muhammad H. Yousef, William A. Gahl, Mohammed Salman Shazeeb, Cynthia J. Tifft, Maria T. Acosta   +13 more
doaj   +2 more sources

Characterization of glycan substrates accumulating in GM1 Gangliosidosis [PDF]

Molecular Genetics and Metabolism Reports, 2019
Introduction: GM1 gangliosidosis is a rare autosomal recessive genetic disorder caused by the disruption of the GLB1 gene that encodes β-galactosidase, a lysosomal hydrolase that removes β-linked galactose from the non-reducing end of glycans. Deficiency
Roger Lawrence, Jeremy L. Van Vleet, Linley Mangini, Adam Harris, Nathan Martin, Wyatt Clark, Sanjay Chandriani, Jonathan H. LeBowitz, Roberto Giugliani, Alessandra d'Azzo, Gouri Yogalingam, Brett E. Crawford   +11 more
doaj   +3 more sources

Adeno-associated virus expressing a blood-brain barrier–penetrating enzyme improves GM1 gangliosidosis in a preclinical model [PDF]

The Journal of Clinical Investigation
GM1 gangliosidosis is a lysosomal storage disorder (LSD) caused by genetic defects in lysosomal β-galactosidase (β-gal). The primary substrate of β-gal is GM1 ganglioside (GM1), a sialylated glycosphingolipid abundant in the central nervous system (CNS).
Saki Kondo Matsushima, Yohta Shimada, Masafumi Kinoshita, Takashi Nagashima, Shinichiro Okamoto, Sayoko Iizuka, Haruna Takagi, Shunsuke Iizuka, Takashi Higuchi, Hiroyuki Hioki, Ayako M. Watabe, Hiroyuki Sonoda, Toya Ohashi, Hiroshi Kobayashi   +13 more
doaj   +2 more sources

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts [PDF]

Orphanet Journal of Rare Diseases
Background Clinical trials for rare diseases pose unique challenges warranting alternative approaches in demonstrating treatment efficacy. Such trials face challenges including small patient populations, variable onset of symptoms and rate of disease ...
Connor J. Lewis, Jean M. Johnston, Silvia Zaragoza Domingo, Gilbert Vezina, Precilla D’Souza, William A. Gahl, David A. Adams, Cynthia J. Tifft, Maria T. Acosta   +8 more
doaj   +2 more sources