Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

Autor: Veronica Nisi, Franco Taroni, Cecilia Bucci, Tiziana Cavallaro, Maria De Luca, Giuseppe Lauria, Stefania Magri, James M. Polke, Roberta Romano, Davide Pareyson, Raffaella Lombardi, Giuseppe Piscosquito, Mary M. Reilly, Paola Fossa, Chiara Pisciotta, Elena Cichero, Gian Maria Fabrizi, Paola Saveri

Publikováno v: Cells
Cells, Vol 9, Iss 1028, p 1028 (2020)
Volume 9
Issue 4

The rare autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) is associated with mutations in the RAB7A gene, involved in the late endocytic pathway. CMT2B is characterized by predominant sensory loss, ulceromutilating features, with lesser-to-abse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4f59b1afd04aa42cfcbb66e670df2f
https://hdl.handle.net/11587/447144

Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?

Autor: Chengbiao Wu, Harry Liu

Publikováno v: International journal of molecular sciences, vol 18, iss 2
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 18, Iss 2, p 324 (2017)

Charcot-Marie-Tooth 2B peripheral sensory neuropathy (CMT2B) is a debilitating autosomal dominant hereditary sensory neuropathy. Patients with this disease lose pain sensation and frequently need amputation. Axonal dysfunction and degeneration of per

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc87a77e9b8ccb4a68cf660472f01cbb
https://escholarship.org/uc/item/8f8204nt

Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development

Autor: Olga Y. Ponomareva, Kevin W. Eliceiri, Mary C. Halloran

Publikováno v: Neural Development

Background Charcot-Marie-Tooth2b (CMT2b) is an axonal form of a human neurodegenerative disease that preferentially affects sensory neurons. CMT2b is dominantly inherited and is characterized by unusually early onset, presenting in the second or thir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb86c333a79011e7590570cf00d3b8d2
http://europepmc.org/articles/PMC4721196

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