Literature DB >> 33260061

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.

Olivia J Rickman1, Claire G Salter2, Adam C Gunning1, James Fasham3, Nikol Voutsina1, Joseph S Leslie1, Lucy McGavin4, Harold E Cross5, Jennifer E Posey6, Zeynep Coban Akdemir6, Shalini N Jhangiani7, James R Lupski8, Emma L Baple9, Andrew H Crosby10.   

Abstract

Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to define loss of function mutations located in the putative non-membrane spanning C19orf12 isoform as the potential basis of monoallelic MPAN.
Copyright © 2020. Published by Elsevier Ltd.

Entities:  

Keywords:  C19orf12; MPAN; NBIA

Year:  2020        PMID： 33260061     DOI： 10.1016/j.parkreldis.2020.10.041

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


  3 in total

Review 1.  Cerebral Iron Deposition in Neurodegeneration.

Authors:  Petr Dusek; Tim Hofer; Jan Alexander; Per M Roos; Jan O Aaseth
Journal:  Biomolecules       Date:  2022-05-17

2.  Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration.

Authors:  Yue Yang; Shijie Zhang; Wenming Yang; Taohua Wei; Wenjie Hao; Ting Cheng; Jiuxiang Wang; Wei Dong; Nannan Qian
Journal:  Front Genet       Date:  2022-03-30       Impact factor: 4.599

3.  A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.

Authors:  Stuart Fraser; Mary Koenig; Laura Farach; Pedro Mancias; Kate Mowrey
Journal:  Mol Genet Genomic Med       Date:  2021-05-27       Impact factor: 2.183
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.