[HTML][HTML] Common pathogenic mechanisms in centronuclear and myotubular myopathies and latest treatment advances

R Gómez-Oca, BS Cowling, J Laporte - International journal of molecular …, 2021 - mdpi.com
Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle
weakness and structural defects including fiber hypotrophy and organelle mispositioning …

[HTML][HTML] X-linked myotubular myopathy

MW Lawlor, JJ Dowling - Neuromuscular Disorders, 2021 - Elsevier
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by
mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal …

Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies

C Gineste, A Simon, M Braun, D Reiss, J Laporte - Brain, 2023 - academic.oup.com
Congenital myopathies define a genetically heterogeneous group of disorders associated
with severe muscle weakness, for which no therapies are currently available. Here we …

Survey on multi-omics, and multi-omics data analysis, integration and application

MH Shahrajabian, W Sun - Current Pharmaceutical Analysis, 2023 - ingentaconnect.com
Multi-omics approaches have developed as a profitable technique for plant systems, a
popular method in medical and biological sciences underlining the necessity to outline new …

[HTML][HTML] Translational Bioinformatics Applied to the study of Complex diseases

MC Casotti, DD Meira, LNR Alves, BGO Bessa… - Genes, 2023 - mdpi.com
Translational Bioinformatics (TBI) is defined as the union of translational medicine and
bioinformatics. It emerges as a major advance in science and technology by covering …

Natural history of a mouse model of X-linked myotubular myopathy

E Sarikaya, N Sabha, J Volpatti… - Disease Models & …, 2022 - journals.biologists.com
ABSTRACT X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of
the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin …

[HTML][HTML] ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome

R Silva-Rojas, L Pérez-Guàrdia, A Simon, S Djeddi… - JCI insight, 2024 - ncbi.nlm.nih.gov
Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) are clinically
overlapping disorders characterized by childhood-onset muscle weakness and a variable …

Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn …

Q Li, J Lin, S Luo, K Schmitz‐Abe… - Journal of cachexia …, 2024 - Wiley Online Library
Background Autosomal‐recessive mutations in SPEG (striated muscle preferentially
expressed protein kinase) have been linked to centronuclear myopathy with or without …

Neuromuscular disorders in the omics era

I Dabaj, F Ducatez, S Marret, S Bekri, A Tebani - Clinica Chimica Acta, 2023 - Elsevier
Neuromuscular disorders encompass a spectrum of conditions characterized by primary
lesions within the peripheral nervous system, which include the anterior horn cell, peripheral …

[HTML][HTML] Machine learning combining multi-omics data and network algorithms identifies adrenocortical carcinoma prognostic biomarkers

R Martin-Hernandez, S Espeso-Gil… - Frontiers in Molecular …, 2023 - frontiersin.org
Background: Rare endocrine cancers such as Adrenocortical Carcinoma (ACC) present a
serious diagnostic and prognostication challenge. The knowledge about ACC pathogenesis …