Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model

scientific article published on June 2014

Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/JNS5.12066
P698PubMed publication ID24862862

P50authorStephan ZüchnerQ30500867
P2093author name stringJustin Price
Fan Zhang
Brad Bolon
Rong Wen
Jose P Silva
Adriana P Rebelo
Alleene V Strickland
P2860cites workMitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutationsQ33877979
Role of mitofusin 2 in the renal stress responseQ34146617
Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase.Q34433265
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutationsQ34600251
MFN2 mutations cause severe phenotypes in most patients with CMT2A.Q34999364
Acetylcholine enhancement in the nucleus accumbens prevents addictive behaviors of cocaine and morphineQ35023045
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Q35749838
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutationsQ36117760
Mitochondrial dynamics and peripheral neuropathyQ36958205
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.Q43086039
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A.Q43575927
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.Q43735166
Mitochondrial fusion protects against neurodegeneration in the cerebellum.Q45931731
The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS systemQ46437005
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.Q48530136
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2Q55670641
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A diseaseQ57898867
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagyQ24300975
Two Mitofusin Proteins, Mammalian Homologues of FZO, with Distinct Functions Are Both Required for Mitochondrial FusionQ28564175
Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degenerationQ28566372
Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesityQ28572807
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic developmentQ28594513
Close contacts with the endoplasmic reticulum as determinants of mitochondrial Ca2+ responsesQ29616076
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AQ29616547
Disruption of fusion results in mitochondrial heterogeneity and dysfunctionQ29616566
Mitofusin 2 tethers endoplasmic reticulum to mitochondriaQ29619861
Mitofusin-2 maintains mitochondrial structure and contributes to stress-induced permeability transition in cardiac myocytesQ30499251
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).Q33246172
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT familiesQ33547163
Unconventional transcriptional response to environmental enrichment in a mouse model of Rett syndromeQ33633998
Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complexQ33779586
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)152-164
P577publication date2014-06-01
P1433published inJournal of the Peripheral Nervous SystemQ15764031
P1476titleCharacterization of the mitofusin 2 R94W mutation in a knock-in mouse model
P478volume19

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cites work (P2860)
Q38893801Common and Divergent Mechanisms in Developmental Neuronal Remodeling and Dying Back Neurodegeneration
Q91955757Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans
Q89743182Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy
Q54985262Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?
Q26741616Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish
Q33649447Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
Q36210125Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle
Q50194442Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease
Q89295264Mitochondrial dynamics in adaptive and maladaptive cellular stress responses
Q98177463Mitofusin 2 Dysfunction and Disease in Mice and Men
Q55003621Mitofusin 2: from functions to disease.
Q89093203Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy
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Q47851457SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency
Q90280870The tethering function of mitofusin2 controls osteoclast differentiation by modulating the Ca2+-NFATC1 axis

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