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

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

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

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://doaj.org/article/e40e8ec09c7a4d0ba4d9b2060ea96573

Repeated ER-endosome contacts promote endosome translocation and neurite outgrowth

Autor: Marina Vietri, Eva Maria Wenzel, Veronica Nisi, Hallvard Lauritz Olsvik, Nina Pedersen, Kay Oliver Schink, Sebastian W. Schultz, Harald Stenmark, Andreas Brech, Terje Johansen, Cecilia Bucci, Camilla Raiborg

The main organelles of the secretory and endocytic pathways--the endoplasmic reticulum (ER) and endosomes, respectively--are connected through contact sites whose numbers increase as endosomes mature. One function of such sites is to enable dephospho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::207a2c7ff6c443afe3a0dd8693d5690a
https://hdl.handle.net/11587/394581

The Rab-interacting lysosomal protein (RILP) regulates vacuolar ATPase acting on the V1G1 subunit

Autor: Veronica Nisi, Cinzia Progida, Maria De Luca, Laura Cogli, Sara Sigismund, Pier Paolo Di Fiore, Roberta Pascolutti, Cecilia Bucci

Publikováno v: Journal of Cell Science.

Rab-interacting lysosomal protein (RILP) is a downstream effector of the Rab7 GTPase. GTP-bound Rab7 recruits RILP to endosomal membranes and, together, they control late endocytic traffic, phagosome and autophagosome maturation and are responsible f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::156e3b4f875edbcba8780e04ab39bcf4
https://doi.org/10.1242/jcs.142604

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

Autor: Saveri, Paola¹ (AUTHOR) paola.saveri@istituto-besta.it, De Luca, Maria² (AUTHOR) maria.deluca@unisalento.it, Nisi, Veronica² (AUTHOR) veronica.nisi@libero.it, Pisciotta, Chiara¹ (AUTHOR) chiara.pisciotta@istituto-besta.it, Romano, Roberta² (AUTHOR) roberta.romano@unisalento.it, Piscosquito, Giuseppe³ (AUTHOR) giuseppe.piscosquito@icsmaugeri.it, Reilly, Mary M.⁴ (AUTHOR) m.reilly@ucl.ac.uk, Polke, James M.⁵ (AUTHOR) james.polke@nhs.net, Cavallaro, Tiziana⁶ (AUTHOR) tiziana.cavallaro@aovr.veneto.it, Fabrizi, Gian Maria⁶ (AUTHOR) gianmaria.fabrizi@univr.it, Fossa, Paola⁷ (AUTHOR) fossa@difar.unige.it, Cichero, Elena⁷ (AUTHOR) cichero@difar.unige.it, Lombardi, Raffaella¹ (AUTHOR) raffaella.lombardi@istituto-besta.it, Lauria, Giuseppe^1,8 (AUTHOR) giuseppe.lauriapinter@istituto-besta.it, Magri, Stefania⁹ (AUTHOR) stefania.magri@istituto-besta.it, Taroni, Franco⁹ (AUTHOR) franco.taroni@istituto-besta.it, Pareyson, Davide¹ (AUTHOR) davide.pareyson@istituto-besta.it, Bucci, Cecilia² (AUTHOR) davide.pareyson@istituto-besta.it

Publikováno v: Cells (2073-4409). Apr2020, Vol. 9 Issue 4, p1028. 1p.

CORRECTION.

Autor: De Luca, Maria, Cogli, Laura, Progida, Cinzia, Nisi, Veronica, Pascolutti, Roberta, Sigismund, Sara, Di Fiore, Pier Paolo, Bucci, Cecilia

Publikováno v: Journal of Cell Science; Jul2015, Vol. 128 Issue 14, p2565-2565, 1p, 1 Graph