Associated Papers
Clinical and molecular assessment of a spastic ataxia 4 (SPAX4) patient with a novel variant in the MTPAP gene, and a systematic review.
Ravanbod M et al.
Gene, 2025
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Flickinger J et al.
Jcsm Clinical Reports, 2021
Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency.
Zhang Q et al.
Nucleic Acids Research, 2021
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Van Eyck L et al.
Neuropediatrics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
NDP52 interacts with mitochondrial RNA poly(A) polymerase to promote mitophagy.
Furuya N et al.
Embo Reports, 2018
New genetic causes for complex hereditary spastic paraplegia.
Souza PVS et al.
Journal of the Neurological Sciences, 2017
Structure of mitochondrial poly(A) RNA polymerase reveals the structural basis for dimerization, ATP selectivity and the SPAX4 disease phenotype.
Lapkouski M et al.
Nucleic Acids Research, 2015
Mitochondrial transcript maturation and its disorders.
Van Haute L et al.
Journal of Inherited Metabolic Disease, 2015
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.
Wilson WC et al.
Human Molecular Genetics, 2014
Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.
Martin NT et al.
Cell Death & Disease, 2014
Autosomal recessive cerebellar ataxias: the current state of affairs.
Vermeer S et al.
Journal of Medical Genetics, 2011
Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Crosby AH et al.
American Journal of Human Genetics, 2010