المؤلفون: Eziuche A. Ugbogu, Lilian M. Schweizer, Michael Schweizer

المصدر: Cells; Volume 11; Issue 12; Pages: 1909

مصطلحات موضوعية: phosphoribosyl pyrophosphate synthetase (PRS/PRPS), eukaryotic model organisms, Saccharomyces cerevisiae, Danio rerio, human neuropathies: Arts syndrome, CMTX5, DFN2/DFNX1, ageing, cancer, cell signalling, CWI pathway

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/cells11121909

الاتاحة: https://doi.org/10.3390/cells11121909

المؤلفون: Akihiro Hashiguchi, Hiroshi Hasegawa, Hiroshi Takashima, Kimiyoshi Ichida, Shunichi Shirakawa, Tatsufumi Murakami, Yoshihide Sunada

المصدر: Internal Medicine. 2022, 61(11):1749

المؤلفون: C. George Priya Doss, Ashish Kumar Agrahari, Ramamoorthy Siva, Hatem Zayed, P. Sneha

مصطلحات موضوعية: 0301 basic medicine, 030103 biophysics, dbSNP, In silico, Biology, medicine.disease_cause, Biochemistry, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Deaf-Blind Disorders, Charcot-Marie-Tooth Disease, Molecular dynamics simulation, Ribose-Phosphate Pyrophosphokinase, medicine, Humans, Missense mutation, Pathogenicity, Amino Acid Sequence, CMTX5, Gene, PRPS1, Genetics, Mutation, business.industry, Phosphoribosyl pyrophosphate, Genetic Diseases, X-Linked, Phenotype, 030104 developmental biology, chemistry, Missense mutations, Ataxia, Neurology (clinical), Personalized medicine, UniProt, business, Stability

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2181acfd54f9a695b67dcf1157fff7e2
https://hdl.handle.net/10576/6210

المؤلفون: Agrahari, Ashish Kumar, Sneha, P, George Priya Doss, C, Siva, R, Zayed, Hatem

مصطلحات موضوعية: CMTX5, Missense mutations, Molecular dynamics simulation, PRPS1, Pathogenicity, Stability

Relation: http://dx.doi.org/10.1007/s11011-017-0121-2; Agrahari, A.K., Sneha, P., George Priya Doss, C. et al. Metab Brain Dis (2017). https://doi.org/10.1007/s11011-017-0121-2; http://hdl.handle.net/10576/6210; 1 - 12

الاتاحة: http://hdl.handle.net/10576/6210
https://doi.org/10.1007/s11011-017-0121-2