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Article

Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.

International journal of molecular sciences - 18 Jan 2021

Binięda Katarzyna, Rzepnikowska Weronika, Kolakowski Damian, Kaminska Joanna, Szczepankiewicz Andrzej Antoni, Nieznańska Hanna, Kochański Andrzej, Kabzińska Dagmara

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative disease that displays great genetic heterogeneity. The genes and mutations that underlie this heterogeneity have been extensively characterized by molecular genetics. However, the molecular pathogenesis of the vast majority of CMT subtypes remains terra incognita. Any attempts to perform experimental therapy for CMT disease are limited by a lack...

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PMID: 33477664
DOI: 10.3390/ijms22020914
PMCID: PMC7831947

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