Cargando…

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-thre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Legati, Andrea, Reyes, Aurelio, Ceccatelli Berti, Camilla, Stehling, Oliver, Marchet, Silvia, Lamperti, Costanza, Ferrari, Alberto, Robinson, Alan J, Mühlenhoff, Ulrich, Lill, Roland, Zeviani, Massimo, Goffrini, Paola, Ghezzi, Daniele
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2017
Materias:	Neurogenetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740555/ https://www.ncbi.nlm.nih.gov/pubmed/29079705 http://dx.doi.org/10.1136/jmedgenet-2017-104822

Ejemplares similares

De novo mutations in SOD1 are a cause of ALS
por: Müller, Kathrin, et al.
Publicado: (2022)

N-terminal tyrosine of ISCU2 triggers [2Fe-2S] cluster synthesis by ISCU2 dimerization
por: Freibert, Sven-A., et al.
Publicado: (2021)

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
por: Cao, Xuanye, et al.
Publicado: (2021)

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
por: Jaber, Dana, et al.
Publicado: (2021)

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation
por: Pozzi, Laura, et al.
Publicado: (2017)

Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
por: Ogonowski, Natalia, et al.
Publicado: (2023)

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
por: Pérez-Palma, Eduardo, et al.
Publicado: (2017)

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia
por: Klein, Christopher J, et al.
Publicado: (2013)

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
por: Liu, Yo-Tsen, et al.
Publicado: (2014)

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis
por: Fratta, Pietro, et al.
Publicado: (2014)

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
por: Tucci, Arianna, et al.
Publicado: (2014)

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients
por: Kuhn, Marius, et al.
Publicado: (2016)

Genetic neurological channelopathies: molecular genetics and clinical phenotypes
por: Spillane, J, et al.
Publicado: (2016)

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series
por: Lynch, David S, et al.
Publicado: (2016)

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
por: Fridman, V, et al.
Publicado: (2015)

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
por: Addis, Laura, et al.
Publicado: (2018)

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
por: Wang, Kun, et al.
Publicado: (2018)

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
por: Juneja, Manisha, et al.
Publicado: (2019)

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial
por: Ohsawa, Yutaka, et al.
Publicado: (2019)

Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
por: Lynch, David S, et al.
Publicado: (2019)

Integrative network and brain expression analysis reveals mechanistic modules in ataxia
por: Eidhof, Ilse, et al.
Publicado: (2019)

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan
por: Yoshimura, Akiko, et al.
Publicado: (2019)

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
por: Tulli, Susanna, et al.
Publicado: (2019)

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
por: Chelban, Viorica, et al.
Publicado: (2017)

Intermediate C9orf72 alleles in neurological disorders: does size really matter?
por: Ng, Adeline S L, et al.
Publicado: (2017)

Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
por: Bobbili, Dheeraj Reddy, et al.
Publicado: (2020)

Myelin oligodendrocyte glycoprotein-associated disorders are associated with HLA subtypes in a Chinese paediatric-onset cohort
por: Sun, Xiaobo, et al.
Publicado: (2020)

Parkinson’s disease GWAS-linked Park16 carriers show greater motor progression
por: Deng, Xiao, et al.
Publicado: (2019)

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
por: Ververis, Antonis, et al.
Publicado: (2020)

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
por: Verdura, Edgard, et al.
Publicado: (2020)

Genetic T-type calcium channelopathies
por: Weiss, Norbert, et al.
Publicado: (2020)

Efficient CRISPR/Cas9 mutagenesis for neurobehavioral screening in adult zebrafish
por: Klatt Shaw, Dana, et al.
Publicado: (2021)

Deficiency of intellectual disability-related gene Brpf1 reduced inhibitory neurotransmission in MGE-derived GABAergic interneurons
por: Cao, Jingli, et al.
Publicado: (2021)

Interacting impact of maternal inflammatory response and stress on the amygdala transcriptome of pigs
por: Keever-Keigher, Marissa R, et al.
Publicado: (2021)

The neural G protein Gα(o) tagged with GFP at an internal loop is functional in Caenorhabditis elegans
por: Kumar, Santosh, et al.
Publicado: (2021)

A screen for sleep and starvation resistance identifies a wake-promoting role for the auxiliary channel unc79
por: Murakami, Kazuma, et al.
Publicado: (2021)

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
por: Maroofian, Reza, et al.
Publicado: (2021)

A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
por: Riso, Vittorio, et al.
Publicado: (2021)

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
por: Grunseich, Christopher, et al.
Publicado: (2021)

Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications
por: Saracino, Dario, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_dkaufm60a2crkchr1unu2us8vk