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ALLMedicine™ Arts Syndrome Center

Research & Reviews  9 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 5th, 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 4th, 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...

Arts Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/arts/

Mar 21st, 2018 - Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, ...

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 19th, 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 7th, 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...

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