Literature DB >> 25962551

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.

Monica Gagliardi1, Grazia Annesi2, G Lesca3, E Broussolle4, Grazia Iannello5, Vincenzo Vaiti2, Antonio Gambardella6, Aldo Quattrone5.   

Abstract

A novel subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) recently has been described: mitochondrial membrane protein-associated neurodegeneration (MPAN), caused by mutations of c19orf12 gene. We present phenotypic data and results of screening of C19orf12 in five unrelated NBIA families. Our data led to identify novel pathogenic mutations in C19orf12.
Copyright © 2015 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  C19orf12; Iron accumulation; MPAN; NBIA

Mesh：

Substances：

Year:  2015        PMID： 25962551     DOI： 10.1016/j.parkreldis.2015.04.009

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


  7 in total

1.  Levodopa-induced dyskinesias in mitochondrial membrane protein-associated neurodegeneration.

Authors:  Daniel Savitt; Joseph Jankovic
Journal:  Neurol Clin Pract       Date:  2019-02

2.  SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

Authors:  Gauthier Remiche; Isabelle Vandernoot; Niloufar Sadeghi-Meibodi; Laurence Desmyter
Journal:  Neurogenetics       Date:  2021-01-04       Impact factor: 2.660

3.  Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).

Authors:  Ethan Gore; Brian S Appleby; Mark L Cohen; Suzanne D DeBrosse; James B Leverenz; Bruce L Miller; Sandra L Siedlak; Xiongwei Zhu; Alan J Lerner
Journal:  Neurocase       Date:  2016-11-01       Impact factor: 0.881

Review 4.  Neurodegeneration with Brain Iron Accumulation.

Authors:  Susanne A Schneider
Journal:  Curr Neurol Neurosci Rep       Date:  2016-01       Impact factor: 5.081

5.  Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).

Authors:  Allison Gregory; Mitesh Lotia; Suh Young Jeong; Rachel Fox; Dolly Zhen; Lynn Sanford; Jeff Hamada; Amir Jahic; Christian Beetz; Alison Freed; Manju A Kurian; Thomas Cullup; Marlous C M van der Weijden; Vy Nguyen; Naly Setthavongsack; Daphne Garcia; Victoria Krajbich; Thao Pham; Randy Woltjer; Benjamin P George; Kelly Q Minks; Alexander R Paciorkowski; Penelope Hogarth; Joseph Jankovic; Susan J Hayflick
Journal:  Mol Genet Genomic Med       Date:  2019-05-13       Impact factor: 2.183

6.  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

7.  Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.

Authors:  Kerri J Kinghorn; Jorge Iván Castillo-Quan
Journal:  Rare Dis       Date:  2016-01-25
  7 in total

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