Results 41 to 50 of about 2,137 (206)

Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses

Clinical Case Reports, 2020
Sandhoff disease is one of the GM2‐gangliosidoses which is caused by a mutation in the HEXB preventing the breakdown of GM2‐ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not found in
Fatemeh Mansouri‐Movahed, Fatemeh Akhoundi, Parvaneh Nikpour, Masoud Garshasbi, Modjtaba Emadi‐Baygi   +4 more
doaj   +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

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

Molecular Genetics &Genomic Medicine, Volume 9, Issue 6, June 2021., 2021
We present three independent Korean children with typical clinical manifestations and neurodevelopmental regression at around 8 months of age, who were biochemically and molecularly confirmed as an infantile form of TSD. Fundus examination can be helpful for early diagnosis of children with neurodevelopmental regression.
Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae   +7 more
wiley   +1 more source

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

O-GlcNAcase:promiscuous hexosaminidase or key regulator of O-GlcNAc signalling? [PDF]

, 2014
O-GlcNAc signaling is regulated by an opposing pair of enzymes: O-GlcNAc transferase installs and O-GlcNAcase (OGA) removes the modification from proteins.
Banerjee, Butkinaree, Cantarel, Cecioni, Cetinba, Comtesse, Copeland, Dennis, Dong, Dorfmueller, Dorfmueller, Drougat, Forsythe, Francisco, Gao, Gong, Graham, Guinez, Hanover, Hart, Hayakawa, He, He, Heckel, Hilgers, Housley, Howerton, Hu, Itkonen, Keembiyehetty, Knapp, Laczy, Lefebvre, Lepage, Libina, Liu, Macauley, Macauley, Macauley, Macauley, Macauley, Mahuran, Martin, Minami, Müller, Nagel, Olszewski, Ostrowski, Pathak, Penton, Radermacher, Rahman, Rao, Rao, Robinson, Ruan, Ruan, Schimpl, Schimpl, Schultz, Sekine, Shen, Slawson, Speakman, Stryke, Swallow, Tews, Toleman, Toleman, Torres, Wang, Wang, Webster, Wells, Whisenhunt, Whitworth, Yang, Yu, Yuzwa, Yuzwa, Zachara, Zachara, Zhu   +82 more
core   +3 more sources

Biochemistry and genetics of gangliosidoses [PDF]

Human Genetics, 1979
The gangliosidoses comprise an-ever increasing number of biochemically and phenotypically variant diseases. In most of them an autosomal recessive inherited deficiency of a lysosomal hydrolase results in the fatal accumulation of glucolipids (predominantly in the nervous tissue) and of oligosaccharides.
K, Sandhoff, H, Christomanou
openaire   +2 more sources

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies

International Journal of Molecular Sciences, 2020
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the β-hexosaminidases subunits or the GM2 activator protein.
A. Leal, Eliana Benincore-Flórez, Daniela Solano-Galarza, Rafael Guillermo Garzón Jaramillo, O. Y. Echeverri-Peña, Diego A. Súarez, C. Alméciga-Díaz, A. Espejo-Mojica   +7 more
semanticscholar   +2 more sources

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S]

Journal of Lipid Research, 2018
Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of β-hexosaminidase A and B activity and the concomitant lysosomal accumulation of its substrate, GM2 ganglioside.
Maria L. Allende, Emily K. Cook, Bridget C. Larman, Adrienne Nugent, Jacqueline M. Brady, Diane Golebiowski, Miguel Sena-Esteves, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +1 more source

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling

Molecular Genetics and Metabolism Reports, 2019
Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides.
Li Ou, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz   +3 more
doaj   +1 more source