Associated Papers
Abnormal fat distribution in two patients with RAB7A-associated Charcot-Marie-Tooth type 2B: a case report.
Kodal LS et al.
Bmc Neurology, 2025
Circulating mitochondrial components and metabolic and inflammatory markers in Charcot-Marie-Tooth type 2B.
Girolimetti G et al.
Neurobiology of Disease, 2025
Modeling of Charcot-Marie-Tooth disease in zebrafish.
Korzeniowska Née Wiweger M et al.
Frontiers in Molecular Neuroscience, 2025
Regulation of Endosomal Trafficking by Rab7 and Its Effectors in Neurons: Clues from Charcot-Marie-Tooth 2B Disease.
Mulligan RJ et al.
Biomolecules, 2023
Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy.
Gu Y et al.
Communications Biology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7K126R Mutation.
Romano R et al.
Cells, 2022
TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
Carinci M et al.
The Embo Journal, 2021
Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease.
Romano R et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Saveri P et al.
Cells, 2020
Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2.
Wong YC et al.
Developmental Cell, 2019
Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons.
Cioni JM et al.
Cell, 2019
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B.
Colecchia D et al.
Autophagy, 2018
Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?
Liu H et al.
International Journal of Molecular Sciences, 2017
Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development.
Ponomareva OY et al.
Neural Development, 2016
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2014
The role of rab proteins in neuronal cells and in the trafficking of neurotrophin receptors.
Bucci C et al.
Membranes, 2014
Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.
Janssens K et al.
Neurobiology of Disease, 2014
A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease.
Wang X et al.
Gene, 2014
Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function.
Cherry S et al.
Elife, 2013
Vimentin phosphorylation and assembly are regulated by the small GTPase Rab7a.
Cogli L et al.
Biochimica Et Biophysica Acta, 2013
Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling.
Zhang K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.
Cogli L et al.
Acta Neuropathologica, 2013
Rab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling.
BasuRay S et al.
The Journal of Biological Chemistry, 2013
Autonomic nervous system involvement in a new CMT2B family.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2012
[PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family].
Xing JW et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2011
Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.
BasuRay S et al.
Plos One, 2010
The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway.
Yamauchi J et al.
Journal of Neuroscience Research, 2010
CMT2B-associated Rab7 mutants inhibit neurite outgrowth.
Cogli L et al.
Acta Neuropathologica, 2010
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Zhang RX et al.
Yi Chuan = Hereditas, 2010
A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family.
Ching CK et al.
Chinese Medical Journal, 2010
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.
McCray BA et al.
Human Molecular Genetics, 2010
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Rotthier A et al.
Brain : a Journal of Neurology, 2009
Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B.
De Luca A et al.
Biochemical and Biophysical Research Communications, 2008
Hereditary sensory neuropathy type I.
Auer-Grumbach M
Orphanet Journal of Rare Diseases, 2008
Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease.
Spinosa MR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008
Molecular genetics of hereditary sensory neuropathies.
Auer-Grumbach M et al.
Neuromolecular Medicine, 2006
SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.
Klein CJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
Houlden H et al.
Annals of Neurology, 2004
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.
Verhoeven K et al.
American Journal of Human Genetics, 2003
Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype.
Peddareddygari LR et al.
Case Reports in Neurology, 0