Results 11 to 20 of about 4,207 (192)

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

JIMD Reports
GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues.
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
doaj   +3 more sources

Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene [PDF]

Frontiers in Pediatrics
ObjectiveTo describe the clinical presentation and novel mutation in the ganglioside-beta-galactosidase gene (GLB1) gene in a Chinese family with GM1 gangliosidosis.MethodsWe collected clinical data from a Chinese family with GM1 gangliosidosis, and ...
Biao Zhang, Xiao-li Huang, Xin-xin Lu, Heng-bin Huang, Yan-an Wu   +4 more
doaj   +2 more sources

Serial MRI Features of Canine GM1 Gangliosidosis: A Possible Imaging Biomarker for Diagnosis and Progression of the Disease [PDF]

The Scientific World Journal, 2012
GM1 gangliosidosis is a fatal neurodegenerative lysosomal storage disease caused by an autosomal recessively inherited deficiency of β-galactosidase activity. Effective therapies need to be developed to treat the disease.
Daisuke Hasegawa, Osamu Yamato, Yuya Nakamoto, Tsuyoshi Ozawa, Akira Yabuki, Kazuhito Itamoto, Takayuki Kuwabara, Michio Fujita, Kimimasa Takahashi, Shunta Mizoguchi, Hiromitsu Orima   +10 more
doaj   +4 more sources

GM1-Gangliosidosis Type III Associated Parkinsonism. [PDF]

Mov Disord Clin Pract, 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 ...
Kaiyrzhanov R, Guliyeva U, Gulieva S, Salayev K, Mursalova A, Allahyarova P, Ferla MP, Houlden H.   +7 more
europepmc   +3 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

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and ...
Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E. Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano   +15 more
doaj   +2 more sources

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

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   +2 more sources

Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model [PDF]

Cell Reports
Summary: Endoplasmic reticulum-plasma membrane (ER-PM) junctions mediate Ca2+ flux across neuronal membranes. The properties of these membrane contact sites are defined by their lipid content, but little attention has been given to glycosphingolipids ...
Jason A. Weesner, Ida Annunziata, Diantha van de Vlekkert, Camenzind G. Robinson, Yvan Campos, Ashutosh Mishra, Leigh E. Fremuth, Elida Gomero, Huimin Hu, Alessandra d’Azzo   +9 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

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis

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   +2 more sources