Cargando…

Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its subtypes are linked to mutations in dozens of different genes, including the gene coding for ganglioside-induced differentiation-associated protein 1 (GDAP1). The main GDAP1-linked CMT subtype...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sutinen, Aleksi, Paffenholz, Dirk, Nguyen, Giang Thi Tuyet, Ruskamo, Salla, Torda, Andrew E., Kursula, Petri
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104300/ https://www.ncbi.nlm.nih.gov/pubmed/37058526 http://dx.doi.org/10.1371/journal.pone.0284532

Ejemplares similares

Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1
por: Sutinen, Aleksi, et al.
Publicado: (2022)

Structure of the Complete Dimeric Human GDAP1 Core Domain Provides Insights into Ligand Binding and Clustering of Disease Mutations
por: Nguyen, Giang Thi Tuyet, et al.
Publicado: (2021)

Erratum: Structure of the Complete Dimeric Human GDAP1 Core Domain Provides Insights Into Ligand Binding and Clustering of Disease Mutations
por: Tuyet Nguyen, Giang Thi, et al.
Publicado: (2022)

Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease
por: González-Sánchez, Paloma, et al.
Publicado: (2019)

CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration
por: González-Sánchez, Paloma, et al.
Publicado: (2017)

Juxtanodin is an intrinsically disordered F-actin-binding protein
por: Ruskamo, Salla, et al.
Publicado: (2012)

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family
por: Martin, Angela M, et al.
Publicado: (2015)

Human myelin proteolipid protein structure and lipid bilayer stacking
por: Ruskamo, Salla, et al.
Publicado: (2022)

Direct Binding of the Flexible C-Terminal Segment of Periaxin to β4 Integrin Suggests a Molecular Basis for CMT4F
por: Raasakka, Arne, et al.
Publicado: (2019)

Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2
por: Ruskamo, Salla, et al.
Publicado: (2017)

Atomic resolution view into the structure–function relationships of the human myelin peripheral membrane protein P2
por: Ruskamo, Salla, et al.
Publicado: (2013)

Publisher Correction: Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2
por: Ruskamo, Salla, et al.
Publicado: (2018)

Membrane Association Landscape of Myelin Basic Protein Portrays Formation of the Myelin Major Dense Line
por: Raasakka, Arne, et al.
Publicado: (2017)

Structure and dynamics of a human myelin protein P2 portal region mutant indicate opening of the β barrel in fatty acid binding proteins
por: Laulumaa, Saara, et al.
Publicado: (2018)

Molecular structure and function of myelin protein P0 in membrane stacking
por: Raasakka, Arne, et al.
Publicado: (2019)

OBSTETRICS (C.M.T.)
Publicado: (1970)

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
por: Sivera, Rafael, et al.
Publicado: (2017)

Isolated Dystonia as an Initial Presentation of GDAP2‐Related Disorder
por: Di Luca, Daniel G., et al.
Publicado: (2023)

Sub-Atomic Resolution Crystal Structures Reveal Conserved Geometric Outliers at Functional Sites
por: Laulumaa, Saara, et al.
Publicado: (2019)

The Gdap1 knockout mouse mechanistically links redox control to Charcot–Marie–Tooth disease
por: Niemann, Axel, et al.
Publicado: (2014)

Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model
por: Rzepnikowska, Weronika, et al.
Publicado: (2020)

Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network
por: Binięda, Katarzyna, et al.
Publicado: (2021)

Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients
por: Kitani-Morii, Fukiko, et al.
Publicado: (2020)

Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice
por: Bai, Yunhong, et al.
Publicado: (2022)

Crystal and solution structures reveal oligomerization of individual capsid homology domains of Drosophila Arc
por: Hallin, Erik I., et al.
Publicado: (2021)

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations
por: Kim, Hyun Su, et al.
Publicado: (2021)

Targeting and Function of the Mitochondrial Fission Factor GDAP1 Are Dependent on Its Tail-Anchor
por: Wagner, Konstanze M., et al.
Publicado: (2009)

Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease
por: Mai, Phuong-Thao, et al.
Publicado: (2019)

Psoriasiform Inflammation Is Associated with Mitochondrial Fission/GDAP1L1 Signaling in Macrophages
por: Alalaiwe, Ahmed, et al.
Publicado: (2021)

Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants
por: Jerath, Nivedita U.
Publicado: (2022)

CMT3 and SUVH4/KYP silence the exonic Evelknievel retroelement to allow for reconstitution of CMT1 mRNA
por: Yadav, Narendra Singh, et al.
Publicado: (2018)

RESPIRATORY MEDICINE CMT (Concise Medical Textbook)
Publicado: (1981)

An observational study of asymmetry in CMT1A
por: Pelayo-Negro, Ana L, et al.
Publicado: (2015)

Caveats in the Established Understanding of CMT1A
por: Li, Jun
Publicado: (2017)

Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail
por: Raasakka, Arne, et al.
Publicado: (2019)

Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain
por: Huber, Nina, et al.
Publicado: (2016)

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia
por: Eidhof, Ilse, et al.
Publicado: (2018)

Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease
por: Cantarero, Lara, et al.
Publicado: (2020)

GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton
por: Wolf, Christina, et al.
Publicado: (2022)

Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report
por: Rodriguez-Hernandez, Adrian, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_dbqqhnp0ifranseab7krvlgi1k