Results 21 to 30 of about 7,809 (216)

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

Molecular Genetics and Metabolism Reports, 2022
GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly ...
Richard W.D. Welford, Herve Farine, Michel Steiner, Marco Garzotti, Kostantin Dobrenis, Claudia Sievers, Daniel S. Strasser, Yasmina Amraoui, Peter M.A. Groenen, Roberto Giugliani, Eugen Mengel   +10 more
doaj   +1 more source

Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats

Journal of Feline Medicine and Surgery Open Reports, 2022
Case series summary Two Japanese domestic cats with GM2 gangliosidosis variant 0, diagnosed at different times, are included in this case series. Both cats were diagnosed by genetic analysis and had the HEXB :c.667C>T pathogenic genetic variant, which ...
Yoshihiko Yu, Daisuke Hasegawa, Yuji Hamamoto, Shunta Mizoguchi, Toshiki Fujimori, Yoshiaki Kubo, Md Shafiqul Islam, Osamu Yamato   +7 more
doaj   +1 more source

Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

JIMD Reports, 2021
Monosialotetrahexosylganglioside (GMI) gangliosidosis and Morquio type B (MorB) are two lysosomal storage disorders (LSDs) caused by the same enzyme deficiency, β‐galactosidase (βgal).
Sandra D. K. Kingma, Berten Ceulemans, Sandra Kenis, An I. Jonckheere   +3 more
doaj   +1 more source

AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates

Molecular Therapy: Methods & Clinical Development, 2022
GM1 gangliosidosis is a rare, inherited neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes the lysosomal hydrolase acid β-galactosidase (β-gal). β-gal deficiency leads to toxic accumulation of GM1 ganglioside, predominantly in
Michaël Hocquemiller, Laura Giersch, Xin Mei, Amanda L. Gross, Ashley N. Randle, Heather L. Gray-Edwards, Judith A. Hudson, Sophia Todeasa, Lorelei Stoica, Douglas R. Martin, Miguel Sena-Esteves, Karen Aiach, Ralph Laufer   +12 more
doaj   +1 more source

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   +9 more sources

7T MRI Predicts Amelioration of Neurodegeneration in the Brain after AAV Gene Therapy

Molecular Therapy: Methods & Clinical Development, 2020
GM1 gangliosidosis (GM1) is a fatal neurodegenerative lysosomal storage disease that occurs most commonly in young children, with no effective treatment available.
Heather L. Gray-Edwards, Anne S. Maguire, Nouha Salibi, Lauren E. Ellis, Taylor L. Voss, Elise B. Diffie, Jey Koehler, Ashley N. Randle, Amanda R. Taylor, Brandon L. Brunson, Thomas S. Denney, Ronald J. Beyers, Atoska S. Gentry, Amanda L. Gross, Ana R. Batista, Miguel Sena-Esteves, Douglas R. Martin   +16 more
doaj   +1 more source

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +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   +1 more source

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

Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation [PDF]

, 2012
This study evaluated whether GM(2) ganglioside storage is necessary for neurodegeneration and neuroinflammation by performing β-hexosaminidase rescue experiments in neurons of HexB(−/−) mice.
Jen-nie H Miller, John A Olschowka, M Kerry O’Banion, Ross H Tallents, Sabine M Brouxhon, Stephanos Kyrkanides   +5 more
core   +1 more source