Results 51 to 60 of about 15,504 (206)

Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis

Annals of Movement Disorders, 2019
Type III GM1 gangliosidosis is the adult or chronic variant of a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase.
Shweta Prasad, Lulup K Sahoo, Jitender Saini, Pramod K Pal   +3 more
doaj   +1 more source

Neuromuscular synaptic transmission in aged ganglioside-deficient mice [PDF]

, 2011
Gangliosides are sialylated glycosphingolipids that are present in high density on neuronal membranes, especially at synapses, where they are assumed to play functional or modulating roles.
Furukawa, K., Furukawa, K., Jacobs, B.C., Plomp, J.J., Todorov, B., Verschuuren, J.J., Willison, H.J., Zitman, F.M.P.   +7 more
core   +1 more source

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   +1 more source

High-throughput imaging method for direct assessment of GM1 ganglioside levels in mammalian cells

Data in Brief, 2016
GM1-gangliosidosis is an inherited autosomal recessive disorder caused by mutations in the gene GLB1, which encodes acid β-galactosidase (β-gal). The lack of activity in this lysosomal enzyme leads to accumulation of GM1 gangliosides (GM1) in cells.
Walter Acosta, Reid Martin, David N. Radin, Carole L. Cramer   +3 more
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry. [PDF]

J Clin Lab Anal
Sphingolipidoses is a group of rare inherited lysosomal diseases that require an early and accurate diagnosis for effective treatment and patient management. A high‐resolution mass spectrometry method coupled with liquid chromatography has beendeveloped to analyze lysosphingolipids in plasma and dried blood spots.
Ducatez F, Mauhin W, Ottaviani J, Plichet T, Pilon C, Lidove O, Barbey F, Perrichot R, Vergnaud S, Berger MG, Berger J, Belmatoug N, Nadjar Y, Lamari F, Noel E, Marret S, Bekri S, Tebani A.   +17 more
europepmc   +2 more sources

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 Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]

, 2010
Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús, Barboza Quintana, Oralia, Barboza Quintana, Álvaro, Garza Alatorre, Arturo Gerardo, Melo de la Garza, Américo, Ponce Camacho, Marco Antonio, Ramírez Bon, Enrique, Rodríguez Gutiérrez, Nora Alicia   +7 more
core  

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

Peripheral blood findings in GM1 gangliosidosis [PDF]

Blood, 2016
![Figure][1] This peripheral blood is from a 3-month-old male patient with a prior diagnosis of GM1 gangliosidosis type I, who was admitted with fever and leukocytosis. There is a family history of 2 siblings with GM1 gangliosidosis.
David T, Lynch, David R, Czuchlewski
openaire   +2 more sources