Molecular genetics of CharcotMarie-Tooth disease: From genes to genomes, Mol Syndromol, vol.3, pp.204-214, 2012. ,
Towards a functional pathology of hereditary neuropathies, Acta Neuropathol, vol.133, pp.493-515, 2017. ,
MFN2 mutations cause severe phenotypes in most patients with CMT2A, Neurology, vol.76, pp.1690-1696, 2011. ,
Clinical implications of genetic advances in Charcot-Marie-Tooth disease, Nat Rev Neurol, vol.9, pp.562-571, 2013. ,
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A, Nat Genet, vol.36, p.660, 2004. ,
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives, J Neurol Sci, vol.356, pp.7-18, 2015. ,
Dissecting mitochondrial fusion, Dev Cell, vol.11, pp.592-594, 2006. ,
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A, Brain, vol.133, pp.1460-1469, 2010. ,
Functions and dysfunctions of mitochondrial dynamics, Nat Rev Mol Cell Biol, vol.8, pp.870-879, 2007. ,
Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration, J Neurosci, vol.32, pp.4145-4155, 2012. ,
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons, Hum Mol Genet, vol.25, pp.4266-4281, 2016. ,
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties, Exp Neurol, vol.263, pp.190-199, 2015. ,
Mice hemizygous for a pathogenic mitofusin-2 allele exhibit hind limb/foot gait deficits and phenotypic perturbations in nerve and muscle, PLoS One, vol.11, p.167573, 2016. ,
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A, Hum Mol Genet, vol.17, pp.367-375, 2008. ,
Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model, J Peripher Nerv Syst, vol.19, pp.152-164, 2014. ,
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations, J Neurosci, vol.27, pp.422-430, 2007. ,
Mitofusin 2 tethers endoplasmic reticulum to mitochondria, Nature, vol.456, pp.605-610, 2008. ,
Mitochondria-associated membranes as hubs for neurodegeneration, Acta Neuropathol, vol.131, pp.505-523, 2016. ,
Endoplasmic reticulum-mitochondria contacts: Function of the junction, Nat Rev Mol Cell Biol, vol.13, pp.607-625, 2012. ,
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution, Hum Mol Genet, 2018. ,
Sensory-neuropathy-causing mutations in ATL3 cause aberrant ER membrane tethering, Cell Rep, vol.23, pp.2026-2038, 2018. ,
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration, Brain, vol.138, pp.875-890, 2015. ,
VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis, Hum Mol Genet, vol.21, pp.1299-1311, 2012. ,
Modulation of the endoplasmic reticulum-mitochondria interface in Alzheimer's disease and related models, Proc Natl Acad Sci, vol.110, pp.7916-7921, 2013. ,
There's something wrong with my MAM; the ER-mitochondria axis and neurodegenerative diseases, Trends Neurosci, vol.39, pp.146-157, 2016. ,
Mitofusin-2 independent juxtaposition of endoplasmic reticulum and mitochondria: An ultrastructural study, PLoS One, vol.7, p.46293, 2012. ,
Mitofusin 2 ablation increases endoplasmic reticulum-mitochondria coupling, Proc Natl Acad Sci, vol.112, pp.2174-2181, 2015. ,
Critical reappraisal confirms that mitofusin 2 is an endoplasmic reticulum-mitochondria tether, Proc Natl Acad Sci, vol.113, pp.11249-11254, 2016. ,
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes, Mendelian Genomics; University of Washington Center for Mendelian Genomics, vol.99, pp.831-845, 2016. ,
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission, Brain, vol.140, pp.2586-2596, 2017. ,
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A, Exp Neurol, vol.218, pp.268-273, 2009. ,
Methods used to evaluate pain behaviors in rodents, Front Mol Neurosci, vol.10, p.284, 2017. ,
DuraSeal as a ligature in the anastomosis of rat sciatic nerve gap injury, J Surg Res, vol.161, pp.101-110, 2010. ,
Calreticulin levels determine onset of early muscle denervation by fast motoneurons of ALS model mice, Neurobiol Dis, vol.73, pp.130-136, 2015. ,
A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice, Nat Neurosci, vol.12, pp.627-636, 2009. ,
Mitochondrial clustering induced by overexpression of the mitochondrial fusion protein Mfn2 causes mitochondrial dysfunction and cell death, Eur J Cell Biol, vol.86, pp.289-302, 2007. ,
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations, J Cell Biol, vol.176, pp.405-414, 2007. ,
Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: A broken relationship?, Cell Death Dis, vol.9, p.333, 2018. ,
Reduced calreticulin levels link endoplasmic reticulum stress and Fas-triggered cell death in motoneurons vulnerable to ALS, J Neurosci, vol.32, pp.4901-4912, 2012. ,
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development, J Cell Biol, vol.160, pp.189-200, 2003. ,
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations, Brain, vol.129, pp.2103-2118, 2006. ,
Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease, Neuromolecular Med, vol.8, pp.63-74, 2006. ,
Phenotypic variability of childhood Charcot-Marie-Tooth disease, JAMA Neurol, vol.73, pp.645-651, 2016. ,
CatWalk-assisted gait analysis in the assessment of spinal cord injury, J Neurotrauma, vol.23, pp.537-548, 2006. ,
Quantitative assessment of gait and neurochemical correlation in a classical murine model of Parkinson's disease, BMC Neurosci, vol.13, p.142, 2012. ,
Motor neuron diversity in development and disease, Annu Rev Neurosci, vol.33, pp.409-440, 2010. ,
Progressive motor deficit is mediated by the denervation of neuromuscular junctions and axonal degeneration in transgenic mice expressing mutant (P301S) tau protein, J Alzheimers Dis, vol.60, issue.1, pp.41-57, 2017. ,
Mitofusin 2 regulates axonal transport of calpastatin to prevent neuromuscular synaptic elimination in skeletal muscles, Cell Metab, vol.28, pp.400-414, 2018. ,
The GTPase dMiro is required for axonal transport of mitochondria to Drosophila synapses, Neuron, vol.47, pp.379-393, 2005. ,
Dynamic neuromuscular remodeling precedes motor-unit loss in a mouse model of ALS, vol.7, p.41973, 2018. ,
Local axonal function of STAT3 rescues axon degeneration in the pmn model of motoneuron disease, J Cell Biol, vol.199, pp.437-451, 2012. ,
SPLICS: A split green fluorescent protein-based contact site sensor for narrow and wide heterotypic organelle juxtaposition, Cell Death Differ, vol.25, pp.1131-1145, 2018. ,
Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1-and SOD1-linked ALS, EMBO Mol Med, vol.8, pp.1421-1437, 2016. ,
MAM: More than just a housekeeper, Trends Cell Biol, vol.19, pp.81-88, 2009. ,
Endoplasmic reticulum protein quality control failure in myelin disorders, Front Mol Neurosci, vol.9, p.162, 2017. ,
Mitofusin 2 (Mfn2) links mitochondrial and endoplasmic reticulum function with insulin signaling and is essential for normal glucose homeostasis, Proc Natl Acad Sci, vol.109, pp.5523-5528, 2012. ,
Loss of mitofusin 2 promotes endoplasmic reticulum stress, J Biol Chem, vol.287, pp.20321-20332, 2012. ,
The role of endoplasmic reticulum stress in neurodegenerative disease, Apoptosis, vol.22, pp.1-26, 2017. ,
Mfn2 modulates the UPR and mitochondrial function via repression of PERK, EMBO J, vol.32, pp.2348-2361, 2013. ,
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of Charcot-Marie-Tooth neuropathy, PLoS Genet, vol.11, p.1005115, 2015. ,
On the role of store-operated calcium entry in acute and chronic neurodegenerative diseases, Front Mol Neurosci, vol.11, p.87, 2018. ,
Mitochondrial dynamics: General concepts and clinical implications, Neurology, vol.78, pp.1612-1619, 2012. ,
In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath, Mitochondrion, vol.23, pp.32-41, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01392227
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation, FASEB J, vol.25, pp.1618-1627, 2011. ,
AAV-mediated expression of wild-type and ALS-linked mutant VAPB selectively triggers death of motoneurons through a Ca2+-dependent ERassociated pathway, J Neurochem, vol.114, pp.795-809, 2010. ,
Mutant SOD1 accumulation in sensory neurons does not associate with endoplasmic reticulum stress features: Implications for differential vulnerability of sensory and motor neurons to SOD1 toxicity, Neurosci Lett, vol.627, pp.107-114, 2016. ,
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2, Brain, vol.129, pp.2093-2102, 2006. ,