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Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.
Biochemistry
November 2024
Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii 96813, United States.
Article Synopsis
- Mutations in dynamin 2 (DNM2) are linked to two movement disorders: Charcot-Marie-Tooth neuropathies (CMT) and centronuclear myopathy (CNM), primarily affecting the pleckstrin homology domain (PHD).
- CNM mutations disrupt intramolecular interactions that normally inhibit DNM2 activity, while CMT mutations are mostly on a different part of the PHD that is involved in binding phosphoinositides, leading to distinct disease outcomes.
- Research reveals that both DNM2 and CNM-linked mutants create larger, more stable structures in the plasma membrane compared to wild-type DNM2, but CNM mutations appear to have a stronger impact, causing more
Congenital myopathies: pathophysiological mechanisms and promising therapies.
J Transl Med
September 2024
Department of Orthopedics, Binhai County People's Hospital, Binhai, Jiangsu Province, 224500, P. R. China.
Congenital myopathies (CMs) are a kind of non-progressive or slow-progressive muscle diseases caused by genetic mutations, which are currently defined and categorized mainly according to their clinicopathological features. CMs exhibit pleiotropy and genetic heterogeneity. Currently, supportive treatment and pharmacological remission are the mainstay of treatment, with no cure available.
View Article and Find Full Text PDFFrequent gene mutations and the correlations with clinicopathological features in clear cell renal cell carcinoma: preliminary study based on Chinese population and TCGA database.
BMC Urol
August 2024
Department of Urology, Beijing Anzhen Hospital, Capital Medical University, 2 Anzhen Road, Chaoyang District, Beijing, 100029, P. R. China.
Background: Large-scale sequencing plays important roles in revealing the genomic map of ccRCC and predicting prognosis and therapeutic response to targeted drugs. However, the relevant clinical data is still sparse in Chinese population.
Methods: Fresh tumor specimens were collected from 66 Chinese ccRCC patients, then the genomic RNAs were subjected to whole transcriptome sequencing (WTS).
Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy.
Elife
July 2024
Equipe Labellisee Ligue 2015, Departement de Biologie Structurale Integrative, Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC), INSERM U1258/CNRS UMR 7104/Universite de Strasbourg, Illkirch, France.
Truncation of the protein-protein interaction SH3 domain of the membrane remodeling Bridging Integrator 1 (BIN1, Amphiphysin 2) protein leads to centronuclear myopathy. Here, we assessed the impact of a set of naturally observed, previously uncharacterized BIN1 SH3 domain variants using conventional and cell-based assays monitoring the BIN1 interaction with dynamin 2 (DNM2) and identified potentially harmful ones that can be also tentatively connected to neuromuscular disorders. However, SH3 domains are typically promiscuous and it is expected that other, so far unknown partners of BIN1 exist besides DNM2, that also participate in the development of centronuclear myopathy.
View Article and Find Full Text PDFPhenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.
J Neuromuscul Dis
September 2024
Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, Karnataka, India.
Background: Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is available from European countries, comprehensive data from the Indian subcontinent is lacking.
Objectives: This study aims to describe the clinical and histopathological characteristics of a cohort of genetically confirmed CMs from India and attempts to do phenotype-genotype correlation.
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