Get started
Keyword

C19orf12

Description: A human protein-coding gene associated with mitochondrial function and neurodegeneration with brain iron accumulation.
Wikidata ID: wiki/Q18047213
OpenAlex ID: keywords/c19orf12
Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
2011 · Monika B. Hartig, Arcangela Iuso, et al. · The American Journal of Human Genetics · 264
PDF
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms
2014 · Sonia Levi, Dario Finazzi · Frontiers in Pharmacology · 164
PDF
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)
2013 · Susanne A. Schneider, Petr Dusek, et al. · Current Neuropharmacology · 140
Parkinson’s disease-associated iPLA2-VIA/ PLA2G6 regulates neuronal functions and α-synuclein stability through membrane remodeling
2019 · Akio Mori, Taku Hatano, et al. · Proceedings of the National Academy of Sciences · 100
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12
2013 · Guida Landouré, Peng-Peng Zhu, et al. · Human Mutation · 95
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)
2020 · Isabel Hinarejos, Candela Machuca, et al. · Antioxidants · 93
Functional characterization of the 19q12 amplicon in grade III breast cancers
2012 · Rachael Natrajan, Alan Mackay, et al. · Breast Cancer Research · 89
PDF
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+
2015 · Paola Venco, Massimo Bonora, et al. · Frontiers in Genetics · 74
PDF
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
2012 · M. Deschauer, C. Gaul, et al. · Journal of Neurology · 64
Pantothenate Kinase-Associated Neurodegeneration
2012 · Monika B. Hartig, Holger Prokisch, et al. · Current Drug Targets · 63
PDF
Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)
2013 · Monika Hartig, Holger Prokisch, et al. · International review of neurobiology · 60
Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)
2019 · Allison Gregory, Mitesh Lotia, et al. · Molecular Genetics & Genomic Medicine · 59
PDF
Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA)
2012 · Susanne A. Schneider, Kailash P. Bhatia · Journal of Neural Transmission · 54
A spatiotemporal proteomic map of human adipogenesis
2024 · Felix Klingelhuber, Scott Frendo-Cumbo, et al. · Nature Metabolism · 47
PDF
SCP2 mutations and neurodegeneration with brain iron accumulation
2015 · Rita Horvath, David Lewis-Smith, et al. · Neurology · 47
PDF
Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases
2015 · Manar Aoun, Valeria Tiranti · The International Journal of Biochemistry & Cell Biology · 46
Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation
2012 · Eva C. Schulte, Malte C. Claussen, et al. · Movement Disorders · 46
Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation
2019 · Zhi-Bin Wang, Jun-Yan Liu, et al. · Biomedicine & Pharmacotherapy · 45
PDF
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism
2015 · Kenya Nishioka, Genko Oyama, et al. · Neurobiology of Aging · 44
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN
2017 · Simone Olgiati, Okan Doğu, et al. · Parkinsonism & Related Disorders · 43
C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation
2012 · Celeste Panteghini, Giovanna Zorzi, et al. · Seminars in Pediatric Neurology · 42
Impairment of Drosophila Orthologs of the Human Orphan Protein C19orf12 Induces Bang Sensitivity and Neurodegeneration
2014 · Arcangela Iuso, Ody C. M. Sibon, et al. · PLoS ONE · 41
PDF
The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies
2022 · Elżbieta Kaja, Adrian Lejman, et al. · International Journal of Molecular Sciences · 36
PDF
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation
2017 · C. Tello, A. Darling, et al. · Clinical Genetics · 34
Rapid disease progression in adult‐onset mitochondrial membrane protein‐associated neurodegeneration
2012 · O Dogu, CE Krebs, et al. · Clinical Genetics · 32
Works count: 148
Citation count: 2,402
Year
Topic
Type