Cargando…

The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders affecting both motor and sensory neurons in the peripheral nervous system. Mutations in the MFN2 gene cause an axonal form of CMT, CMT2A. The V705I variant in MFN2 has been previously reported as a dis...

Descripción completa

Detalles Bibliográficos
Autores principales:	Albulym, Obaid M., Zhu, Danqing, Reddel, Stephen, Kennerson, Marina, Nicholson, Garth
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2013
Materias:	Clinical Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437342/ https://www.ncbi.nlm.nih.gov/pubmed/26316991 http://dx.doi.org/10.1155/2013/495873

Ejemplares similares

Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations
por: Detmer, Scott A., et al.
Publicado: (2007)

Defective nucleotide-dependent assembly and membrane fusion in Mfn2 CMT2A variants improved by Bax
por: Samanas, Nyssa B, et al.
Publicado: (2020)

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
por: Braathen, Geir J, et al.
Publicado: (2010)

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
por: Schon, Katherine, et al.
Publicado: (2017)

MFN1 and MFN2 Are Dispensable for Sperm Development and Functions in Mice
por: Miao, Junru, et al.
Publicado: (2021)

Identity-by-descent analysis of CMTX3 links three families through a common founder
por: Henden, Lyndal, et al.
Publicado: (2022)

The MFN1 and MFN2 mitofusins promote clustering between mitochondria and peroxisomes
por: Huo, Yinbo, et al.
Publicado: (2022)

MFN2 Plays a Distinct Role from MFN1 in Regulating Spermatogonial Differentiation
por: Chen, Wei, et al.
Publicado: (2020)

Identification of a mitofusin specificity region that confers unique activities to Mfn1 and Mfn2
por: Sloat, S. R., et al.
Publicado: (2019)

Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family
por: Vinciguerra, C., et al.
Publicado: (2023)

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
por: Grosz, Bianca R., et al.
Publicado: (2019)

Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
por: Chen, Hsiuchen, et al.
Publicado: (2003)

Hearts deficient in both Mfn1 and Mfn2 are protected against acute myocardial infarction
por: Hall, A R, et al.
Publicado: (2016)

Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A
por: Chen, Zhiyong, et al.
Publicado: (2022)

MFN2 mutations cause compensatory mitochondrial DNA proliferation
por: Sitarz, Kamil S., et al.
Publicado: (2012)

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation
por: Cutrupi, Anthony N., et al.
Publicado: (2018)

Correction: Hearts deficient in both Mfn1 and Mfn2 are protected against acute myocardial infarction
por: Hall, A. R., et al.
Publicado: (2021)

Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1
por: Grosz, Bianca R., et al.
Publicado: (2021)

A Family Harboring CMT1A Duplication and HNPP Deletion
por: Lee, Jung Hwa, et al.
Publicado: (2007)

An evaluation of the Hitachi 705 analyser
por: Ferré, C., et al.
Publicado: (1984)

The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort
por: Ma, Yan, et al.
Publicado: (2021)

Conformational sampling of CMT-2D associated GlyRS mutations
por: Childers, Matthew Carter, et al.
Publicado: (2022)

OBSTETRICS (C.M.T.)
Publicado: (1970)

Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients
por: Kitani-Morii, Fukiko, et al.
Publicado: (2020)

Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice
por: Bai, Yunhong, et al.
Publicado: (2022)

Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype
por: Peddareddygari, Leema Reddy, et al.
Publicado: (2016)

Early-onset cerebellar ataxia in a patient with CMT2A2
por: Madrid, Ricardo, et al.
Publicado: (2020)

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing
por: Drew, Alexander P, et al.
Publicado: (2015)

Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot-Marie-Tooth type 2A
por: You, Yi, et al.
Publicado: (2018)

Mitochondrial Dynamics Related Genes -MFN1, MFN2 and DRP1 Polymorphisms are Associated with Risk of Lung Cancer
por: Liang, Xiaohua, et al.
Publicado: (2021)

Mitofusins Mfn1 and Mfn2 Are Required to Preserve Glucose- but Not Incretin-Stimulated β-Cell Connectivity and Insulin Secretion
por: Georgiadou, Eleni, et al.
Publicado: (2022)

Anti-Tumor Effects of Mfn2 in Gastric Cancer
por: Zhang, Ge-Er, et al.
Publicado: (2013)

Mfn2 Overexpression Attenuates MPTP Neurotoxicity In Vivo
por: Zhao, Fanpeng, et al.
Publicado: (2021)

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity
por: Guerriero, Silvana, et al.
Publicado: (2020)

Animal Models of CMT2A: State-of-art and Therapeutic Implications
por: De Gioia, Roberta, et al.
Publicado: (2020)

Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases
por: Franco, Antonietta, et al.
Publicado: (2022)

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)
por: Engelfried, Kathrin, et al.
Publicado: (2006)

Dalcetrapib: JTT 705; JTT-705; R 1658; R1658; RG1658; RO 4607381; RO4607381
Publicado: (2012)

P02-025 - Homozygous Q705K sequence variant in NLRP3
por: Berg, S, et al.
Publicado: (2013)

Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation
por: Akdal, Gülden, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ubld3553ammeeqbvt7p3g3nng2