Cargando…

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy

Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previ...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rius, Rocio, Bennett, Neal K., Bhattacharya, Kaustuv, Riley, Lisa G., Yüksel, Zafer, Formosa, Luke E., Compton, Alison G., Dale, Russell C., Cowley, Mark J., Gayevskiy, Velimir, Al Tala, Saeed M., Almehery, Abdulrahman A., Ryan, Michael T., Thorburn, David R., Nakamura, Ken, Christodoulou, John
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771894/ https://www.ncbi.nlm.nih.gov/pubmed/36030551 http://dx.doi.org/10.1002/humu.24453

Ejemplares similares

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
por: Vetro, Annalisa, et al.
Publicado: (2020)

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy
por: Nasca, Alessia, et al.
Publicado: (2016)

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
por: van der Knoop, Marieke M, et al.
Publicado: (2022)

Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review
por: AlSaif, Shahad, et al.
Publicado: (2019)

Seave: a comprehensive web platform for storing and interrogating human genomic variation
por: Gayevskiy, Velimir, et al.
Publicado: (2019)

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
por: Johnstone, Devon L., et al.
Publicado: (2020)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function
por: Van Bergen, Nicole J., et al.
Publicado: (2022)

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy
por: Seo, Jieun, et al.
Publicado: (2020)

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
por: Nafisinia, Michael, et al.
Publicado: (2017)

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
por: Kambouris, Marios, et al.
Publicado: (2016)

European derived Saccharomyces cerevisiae colonisation of New Zealand vineyards aided by humans
por: Gayevskiy, Velimir, et al.
Publicado: (2016)

Early infantile epileptic encephalopathies
por: Fois, Alberto
Publicado: (2014)

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases
por: Rius, Rocio, et al.
Publicado: (2021)

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
por: Punetha, Jaya, et al.
Publicado: (2019)

ObStruct: A Method to Objectively Analyse Factors Driving Population Structure Using Bayesian Ancestry Profiles
por: Gayevskiy, Velimir, et al.
Publicado: (2014)

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
por: Siekierska, Aleksandra, et al.
Publicado: (2019)

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
por: Alston, Charlotte L., et al.
Publicado: (2016)

Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism
por: Burke, E.A., et al.
Publicado: (2018)

Biallelic IARS2 mutations presenting as sideroblastic anemia
por: Barcia, Giulia, et al.
Publicado: (2021)

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
por: Sen, Kuntal, et al.
Publicado: (2021)

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania
por: Ware, Tyson L., et al.
Publicado: (2019)

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
por: Friedman, Jennifer, et al.
Publicado: (2019)

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
por: Schänzer, Anne, et al.
Publicado: (2021)

Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
por: Kuroha, Yasuko, et al.
Publicado: (2022)

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants
por: Kodama, Kazuo, et al.
Publicado: (2023)

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
por: Dahimene, Shehrazade, et al.
Publicado: (2022)

Pyridoxine Trial in Early Infantile Epileptic Encephalopathy: Never Forget!
por: Sharawat, Indar Kumar, et al.
Publicado: (2020)

Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy
por: Liu, Xianyu, et al.
Publicado: (2021)

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
por: Rius, Rocio, et al.
Publicado: (2019)

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
por: Yigit, Gökhan, et al.
Publicado: (2022)

Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations
por: Hu, Wenjing, et al.
Publicado: (2022)

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy
por: Fung, Cheuk‐Wing, et al.
Publicado: (2017)

De novo NSF mutations cause early infantile epileptic encephalopathy
por: Suzuki, Hisato, et al.
Publicado: (2019)

SCN1B‐linked early infantile developmental and epileptic encephalopathy
por: Aeby, Alec, et al.
Publicado: (2019)

Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority
por: Jaxybayeva, Altynshash, et al.
Publicado: (2021)

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
por: Kumar, Kishore R, et al.
Publicado: (2016)

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
por: de Valles‐Ibáñez, Guillem, et al.
Publicado: (2021)

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
por: Wintjes, Liesbeth T. M., et al.
Publicado: (2020)

SCN8A Mutation in Infantile Epileptic Encephalopathy: Report of Two Cases
por: Fatema, Kanij, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_6ojd01rslkje7po75jips51rng