Results 31 to 40 of about 3,090 (194)

Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases [PDF]

, 2017
Molecular genetic testing has not been used extensively as the primary diagnostic test for LSDs but this may change with the advent of rapid, reliable and affordable high-throughput DNA sequencing, the so called next generation sequencing.
Alves, Sandra, Coutinho, Maria Francisca, Encarnação, Marisa, Nogueira, Célia, Ribeiro, Diogo, Silva, Lisbeth   +5 more
core   +5 more sources

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders [PDF]

, 2014
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families.
Armstrong, J., Castiñeiras, D., Castro-Gago, M., Cocho, J., Couce, M., Eiris, J., Fernández-Marmiesse, A., Fraga, J., Gouveia, S., Lacerda, L., Morey, M., Pineda, M., Pérez-Poyato, M.   +12 more
core   +2 more sources

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

PLoS ONE, 2013
Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa, Shinji Tamura, Yuya Nakamoto, Naoaki Matsuki, Kimimasa Takahashi, Michio Fujita, Kazuyuki Uchida, Osamu Yamato   +7 more
doaj   +1 more source

Late-onset Tay-Sachs disease [PDF]

, 2017
We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of ...
Andrew W Barritt, Basil H Ridha, Bocchetta, Chen, Cooper-Knock, Elstein, Frey, Ghasemi, MacQueen, Neudorfer, Neudorfer, Osher, P Nigel Leigh, Shapiro, Stryer, Stuart J Anderson, Suzuki, Turner, Zaroff   +18 more
core   +1 more source

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene

Molecular Genetics and Metabolism Reports, 2017
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP).
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky   +6 more
doaj   +1 more source

GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease

Journal of Neuroinflammation, 2020
Background Tay-Sachs disease (TSD), a type of GM2-gangliosidosis, is a progressive neurodegenerative lysosomal storage disorder caused by mutations in the α subunit of the lysosomal β-hexosaminidase enzyme.
Seçil Akyıldız Demir, Zehra Kevser Timur, Nurselin Ateş, Luis Alarcón Martínez, Volkan Seyrantepe   +4 more
doaj   +1 more source

Membrane lipids and their degradation compounds control GM2 catabolism at intralysosomal luminal vesicles

Journal of Lipid Research, 2019
The catabolism of ganglioside GM2 is dependent on three gene products. Mutations in any of these genes result in a different type of GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease, and the B1 and AB variants of GM2 gangliosidosis), with GM2 as ...
Susi Anheuser, Bernadette Breiden, Konrad Sandhoff   +2 more
doaj   +1 more source

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. [PDF]

, 2013
Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late ...
Beltrami, Antonio Paolo, Beltrami, Carlo Alberto, Bembi, B, Bergamin, N, Cesselli, Daniela, Dardis, A, Domenis, Rossana, Rigo, S, Zampieri, S   +8 more
core   +2 more sources

In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside. [PDF]

PLoS ONE, 2013
The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase A, E.C. # 3.2.1.
Incilay Sinici, Sayuri Yonekawa, Ilona Tkachyova, Steven J Gray, R Jude Samulski, Warren Wakarchuk, Brian L Mark, Don J Mahuran   +7 more
doaj   +1 more source

Structural basis of the GM2 gangliosidosis B variant [PDF]

Journal of Human Genetics, 2003
To study the structural basis of the GM2 gangliosidosis B variant, we constructed the three-dimensional structures of the human beta-hexosaminidase alpha-subunit and the heterodimer of the alpha- and beta-subunits, Hex A, by homology modeling. The alpha-subunit is composed of two domains, domains I and II.
Fumiko, Matsuzawa, Sei-ichi, Aikawa, Hitoshi, Sakuraba, Hoang Thi Ngoc, Lan, Akemi, Tanaka, Kousaku, Ohno, Yuko, Sugimoto, Haruaki, Ninomiya, Hirofumi, Doi   +8 more
openaire   +2 more sources