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ALLMedicine™ Arts Syndrome Center

Research & Reviews  8 results

Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748441
PLoS Genetics; Delos Santos K, Kim M et. al.

Sep 6th, 2019 - Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological d...

X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
https://doi.org/10.1016/j.braindev.2018.08.006
Brain & Development; Nishikura N, Yamagata T et. al.

Sep 5th, 2018 - X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the pho...

A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
https://doi.org/10.1007/s11011-017-0121-2
Metabolic Brain Disease; Agrahari AK, Sneha P et. al.

Oct 20th, 2017 - Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl pyrophosphate synth...

Arts syndrome
https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome

Apr 8th, 2014 - Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mut...

Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young ...
https://doi.org/10.1016/j.braindev.2013.08.013
Brain & Development; Chen BC, Balasubramaniam S et. al.

Sep 24th, 2013 - Lesch-Nyhan disease (LND) is a rare X-linked recessive neurogenetic disorder caused by deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) which is responsible for recycling purine bases into purine nu...

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