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Xenia Massana Munoz

Explore the profile of Xenia Massana Munoz including associated specialties, affiliations and a list of published articles. Areas
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Citations 53
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Recent Articles
1.
Lionello V, Kretz C, Edelweiss E, Crucifix C, Gomez-Oca R, Messaddeq N, et al.
Proc Natl Acad Sci U S A . 2022 Feb; 119(9). PMID: 35217605
The mechanoenzyme dynamin 2 (DNM2) is crucial for intracellular organization and trafficking. is mutated in dominant centronuclear myopathy (DNM2-CNM), a muscle disease characterized by defects in organelle positioning in myofibers....
2.
Massana Munoz X, Kretz C, Silva-Rojas R, Ochala J, Menuet A, Romero N, et al.
JCI Insight . 2020 Aug; 5(18). PMID: 32809972
Classical dynamins are large GTPases regulating membrane and cytoskeleton dynamics, and they are linked to different pathological conditions ranging from neuromuscular diseases to encephalopathy and cancer. Dominant dynamin 2 (DNM2)...
3.
Massana Munoz X, Buono S, Koebel P, Laporte J, Cowling B
Hum Mol Genet . 2019 Oct; 28(24):4067-4077. PMID: 31628461
Dynamin 2 (DNM2) is a ubiquitously expressed GTPase implicated in many cellular functions such as membrane trafficking and cytoskeleton regulation. Dominant mutations in DNM2 result in tissue-specific diseases affecting peripheral...
4.
Gayi E, Neff L, Massana Munoz X, Ismail H, Sierra M, Mercier T, et al.
Nat Commun . 2018 Nov; 9(1):4848. PMID: 30451843
X-linked myotubular myopathy (XLMTM, also known as XLCNM) is a severe congenital muscular disorder due to mutations in the myotubularin gene, MTM1. It is characterized by generalized hypotonia, leading to...