Cargando…
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites
GDAP1 pathogenic variants cause Charcot-Marie-Tooth (CMT) disease, the most common hereditary motor and sensory neuropathy. CMT-GDAP1 can be axonal or demyelinating, with autosomal dominant or recessive inheritance, leading to phenotypic heterogeneity. Recessive GDAP1 variants cause a severe phenoty...
Autores principales: | Cantarero, Lara, García-Vargas, Gisela, Hoenicka, Janet, Palau, Francesc |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110396/ https://www.ncbi.nlm.nih.gov/pubmed/36912213 http://dx.doi.org/10.1242/bio.059707 |
Ejemplares similares
-
Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease
por: Cantarero, Lara, et al.
Publicado: (2020) -
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
por: Pijuan, Jordi, et al.
Publicado: (2022) -
Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease
por: González-Sánchez, Paloma, et al.
Publicado: (2019) -
Quantitative imaging of membrane contact sites for sterol transfer between endo-lysosomes and mitochondria in living cells
por: Juhl, Alice Dupont, et al.
Publicado: (2021) -
Live cell microscopy of mitochondria-lysosome contact site formation and tethering dynamics
por: Belton, Tayler B., et al.
Publicado: (2022)