Are some C19orf12 variants monoallelic for neurological disorders?

被引：4
作者：
Tariq, Huma [1 ,2 ]
Butt, Jalil ur Rehman [3 ]
Houlden, Henry [1 ]
Naz, Sadaf [2 ]
机构：
[1] UCL, Dept Neurogenet, UCL Inst Neurol, Queen Sq House, London, England
[2] Univ Punjab, Sch Biol Sci, Quaid i Azam Campus, Lahore 54590, Pakistan
[3] Lahore Gen Hosp, Punjab Inst Neurosci, Lahore, Pakistan
来源：
PARKINSONISM & RELATED DISORDERS | 2019年 / 65卷
基金：
英国惠康基金;
关键词：
C19orf12; MPAN; Monoallelic; Pakistan; NEURODEGENERATION; MUTATIONS; SUBTYPE;
D O I：
10.1016/j.parkreldis.2019.05.020
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：267 / 269
页数：3
相关论文
共 37 条
  • [21] C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration
    Shao, Changjuan
    Zhu, Julia
    Ma, Xiaopin
    Siedlak, Sandra L.
    Cohen, Mark L.
    Lerner, Alan
    Wang, Wenzhang
    FREE RADICAL BIOLOGY AND MEDICINE, 2022, 182 : 23 - 33
  • [22] Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation
    Lefter, Antonia
    Mitrea, Iulia
    Mitrea, Dan
    Plaiasu, Vasilica
    Bertoli-Avella, Aida
    Beetz, Christian
    Cozma, Liviu
    Tulba, Delia
    Elena Mitu, Cristina
    Ovidiu Popescu, Bogdan
    NEUROCASE, 2021, 27 (06) : 481 - 483
  • [23] Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients
    Khani, Marzieh
    Alavi, Afagh
    Shamshiri, Hosein
    Zamani, Babak
    Hassanpour, Hosein
    Kazemi, Mohammad Hossein
    Nafissi, Shahriar
    Elahi, Elahe
    NEUROBIOLOGY OF AGING, 2019, 75 : 225.e9 - 225.e14
  • [24] A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration
    Chen, Huan-Yun
    Lin, Han-, I
    Hsu, Chia-Lang
    Chen, Pei-Lung
    Huang, Cheng-Yen
    Teng, Shu-Chun
    Lin, Chin-Hsien
    PARKINSONISM & RELATED DISORDERS, 2023, 109
  • [25] Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life
    Vykuntaraju K. Gowda
    Arundhati Patil
    Varunvenkat M. Srinivasan
    Nihar Kathrani
    The Indian Journal of Pediatrics, 2019, 86 : 746 - 748
  • [26] Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life
    Gowda, Vykuntaraju K.
    Patil, Arundhati
    Srinivasan, Varunvenkat M.
    Kathrani, Nihar
    INDIAN JOURNAL OF PEDIATRICS, 2019, 86 (08) : 746 - 748
  • [27] C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia
    Ramesh, Rithvik
    Deenadayalu, Anu
    Bhattacharjee, Shakya
    Paramanandam, Vijayashankar
    PARKINSONISM & RELATED DISORDERS, 2021, 89 : 146 - 147
  • [28] A novel p.Ala34Val variant in C19orf12 is associated with neurodegeneration with brain iron accumulation
    Kocaaga, Ayca
    Uslu, Pinar Uzun
    NEUROLOGY ASIA, 2022, 27 (03) : 803 - 806
  • [29] Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
    Hartig, Monika B.
    Iuso, Arcangela
    Haack, Tobias
    Kmiec, Tomasz
    Jurkiewicz, Elzbieta
    Heim, Katharina
    Roeber, Sigrun
    Tarabin, Victoria
    Dusi, Sabrina
    Krajewska-Walasek, Malgorzata
    Jozwiak, Sergiusz
    Hempel, Maja
    Winkelmann, Juliane
    Elstner, Matthias
    Oexle, Konrad
    Klopstock, Thomas
    Mueller-Felber, Wolfgang
    Gasser, Thomas
    Trenkwalder, Claudia
    Tiranti, Valeria
    Kretzschmar, Hans
    Schmitz, Gerd
    Strom, Tim M.
    Meitinger, Thomas
    Prokisch, Holger
    AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (04) : 543 - 550
  • [30] Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration
    Yang, Yue
    Zhang, Shijie
    Yang, Wenming
    Wei, Taohua
    Hao, Wenjie
    Cheng, Ting
    Wang, Jiuxiang
    Dong, Wei
    Qian, Nannan
    FRONTIERS IN GENETICS, 2022, 13
1234