Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects

Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects

Mitochondrial disorders (MIDs) shows overlapping clinical presentations owing to the genetic and metabolic defects of mitochondria. However, specific relationship between inherited mutations in nuclear encoded mitochondrial proteins and their functional impacts in terms of metabolic defects in patie...

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Bibliographic Details
Main Authors: Nagwa E.A. Gaboon, Babajan Banaganapalli, Khalidah Nasser, Mohammed Razeeth, Mosab S. Alsaedi, Omran M. Rashidi, Lereen S. Abdelwehab, Turki Saad Alahmadi, Osama Y. Safdar, Jilani Shaik, Hani M.Z. Choudhry, Huda Husain Al-numan, Mohammad Imran Khan, Jumana Y. Al-Aama, Ramu Elango, Noor A. Shaik
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Saudi Journal of Biological Sciences
Online Access:http://www.sciencedirect.com/science/article/pii/S1319562X19301974

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http://www.sciencedirect.com/science/article/pii/S1319562X19301974

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