Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy

Autor: Yingli Gu, Flora Guerra, Mingzheng Hu, Alexander Pope, Kijung Sung, Wanlin Yang, Simone Jetha, Thomas A. Shoff, Tessanya Gunatilake, Owen Dahlkamp, Linda Zhixia Shi, Fiore Manganelli, Maria Nolano, Yue Zhou, Jianqing Ding, Cecilia Bucci, Chengbiao Wu

Publikováno v: Communications Biology. 5

The Rab7(V162M) mutation associated with Charcot Marie Tooth 2B peripheral neuropathy causes mitochondrial fragmentation in patient-derived fibroblasts and primary cultured dorsal root ganglion sensory neurons from E18 mouse embryos.Rab7 GTPase regul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be9af60d67665ab37df8df0a85569e59
https://doi.org/10.1038/s42003-022-03632-1

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies

Autor: D’ambrosio, P., Petillo, R., Annalaura Torella, Papa, A. A., Palladino, A., Orsini, C., Ergoli, M., Passamano, L., Novelli, A., Nigro, V., Politano, L.

Publikováno v: Acta Myologica
Scopus-Elsevier

Mutations in the LMNA gene are associated with a wide spectrum of disease phenotypes, ranging from neuromuscular, cardiac and metabolic disorders to premature aging syndromes. Skeletal muscle involvement may present with different phenotypes: limb-gi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::63db0b140e25bf27478e74e1b081020a
http://europepmc.org/articles/PMC6598412

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

Autor: Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G., Kutsche, K.

Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a

Externí odkaz: https://tud.qucosa.de/id/qucosa%3A71623
https://tud.qucosa.de/api/qucosa%3A71623/attachment/ATT-0/

Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

Autor: Gomez Garcia de la Banda, M., Natera-de Benito, D., Dabaj, I., Ben Yaou, R., Ortez, C., Wahbi, K., Maldonado, S., Clarke, N., Carlier, R., Colomer, J., Bonne, Gisèle, Nascimento, A., Monges, M., Quijano-Roy, S.

Publikováno v: 24th International Annual Congress of the World-Muscle-Society (WMS)
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S141, 2019, ⟨10.1016/j.nmd.2019.06.370⟩

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3515::ed8c54ee7b6efce3dc10cd414275805c
https://hal.science/hal-03973469

An altered lipid metabolism characterizes Charcot-Marie-Tooth type 2B peripheral neuropathy

Autor: Serena Longo, Vincenzo Mangini, Lucio Santoro, Roberta Romano, Raffaella Beli, Maria Nolano, Cecilia Bucci, Fiore Manganelli, Anna Maria Giudetti, Flora Guerra

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1865:158805

Charcot-Marie Tooth type 2B (CMT2B) is a rare inherited peripheral neuropathy caused by five missense mutations in the RAB7A gene, which encodes a small GTPase of the RAB family. Currently, no cure is available for this disease. In this study, we app

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bfc8122939bf34faed494d3fccb23bf
https://doi.org/10.1016/j.bbalip.2020.158805