An Unusual Splice Defect in the Mitofusin 2 Gene (MFN2) Is Associated with Degenerative Axonopathy in Tyrolean Grey Cattle
Published 2011 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
An Unusual Splice Defect in the Mitofusin 2 Gene (MFN2) Is Associated with Degenerative Axonopathy in Tyrolean Grey Cattle
Authors
Keywords
-
Journal
PLoS One
Volume 6, Issue 4, Pages e18931
Publisher
Public Library of Science (PLoS)
Online
2011-04-16
DOI
10.1371/journal.pone.0018931
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Degenerative Axonopathy in a Tyrolean Grey Calf
- (2010) C. Syring et al. JOURNAL OF VETERINARY INTERNAL MEDICINE
- Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development
- (2010) Cord Drögemüller et al. PLoS Genetics
- Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations
- (2009) Judith Calvo et al. ARCHIVES OF NEUROLOGY
- Inherited diseases of Australian Holstein-Friesian cattle
- (2009) PA Windsor et al. AUSTRALIAN VETERINARY JOURNAL
- Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing
- (2009) JC Defesche et al. CLINICAL GENETICS
- Role of mitofusin 2 mutations in the physiopathology of Charcot–Marie–Tooth disease type 2A
- (2009) Romain Cartoni et al. EXPERIMENTAL NEUROLOGY
- Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing
- (2009) Mireguli Maimaiti et al. JOURNAL OF HUMAN GENETICS
- Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene
- (2009) Bo Thomsen et al. NEUROGENETICS
- Development and Characterization of a High Density SNP Genotyping Assay for Cattle
- (2009) Lakshmi K. Matukumalli et al. PLoS One
- A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta
- (2009) Cord Drögemüller et al. PLoS Genetics
- Mitochondrial fusion and function in Charcot–Marie–Tooth type 2A patient fibroblasts with mitofusin 2 mutations
- (2008) Elizabeth A. Amiott et al. EXPERIMENTAL NEUROLOGY
- Genome-wide association analysis in domestic animals: a powerful approach for genetic dissection of trait loci
- (2008) Leif Andersson GENETICA
- Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: An animal model of human Brody disease
- (2008) Cord Drögemüller et al. GENOMICS
- Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated WithMitofusin 2Mutations
- (2008) Jean-Michel Vallat et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Mitofusin 2 tethers endoplasmic reticulum to mitochondria
- (2008) Olga Martins de Brito et al. NATURE
- Highly effective SNP-based association mapping and management of recessive defects in livestock
- (2008) Carole Charlier et al. NATURE GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation