Spinal muscular atrophy

E Mercuri, CJ Sumner, F Muntoni, BT Darras… - Nature Reviews …, 2022 - nature.com
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

Histone deacetylases inhibitors in neurodegenerative diseases, neuroprotection and neuronal differentiation

S Shukla, BL Tekwani - Frontiers in pharmacology, 2020 - frontiersin.org
Histone deacetylases (HADC) are the enzymes that remove acetyl group from lysine residue
of histones and non-histone proteins and regulate the process of transcription by binding to …

Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions

JK Nussbacher, R Tabet, GW Yeo, C Lagier-Tourenne - Neuron, 2019 - cell.com
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

The many roles of histone deacetylases in development and physiology: implications for disease and therapy

M Haberland, RL Montgomery, EN Olson - Nature Reviews Genetics, 2009 - nature.com
Histone deacetylases (HDACs) are part of a vast family of enzymes that have crucial roles in
numerous biological processes, largely through their repressive influence on transcription …

Spinal muscular atrophy

A D'Amico, E Mercuri, FD Tiziano, E Bertini - Orphanet journal of rare …, 2011 - Springer
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

KD Foust, X Wang, VL McGovern, L Braun… - Nature …, 2010 - nature.com
Spinal muscular atrophy (SMA), the most common autosomal recessive neurodegenerative
disease affecting children, results in impaired motor neuron function. Despite knowledge of …

Spinal muscular atrophy

MR Lunn, CH Wang - The Lancet, 2008 - thelancet.com
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease
characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles …

Brain-derived neurotrophic factor is produced by skeletal muscle cells in response to contraction and enhances fat oxidation via activation of AMP-activated protein …

VB Matthews, MB Åström, MHS Chan, CR Bruce… - Diabetologia, 2009 - Springer
Aims/hypothesis Brain-derived neurotrophic factor (BDNF) is produced in skeletal muscle,
but its functional significance is unknown. We aimed to determine the signalling processes …

Potential therapeutic strategies for skeletal muscle atrophy

L Huang, M Li, C Deng, J Qiu, K Wang, M Chang… - Antioxidants, 2022 - mdpi.com
The maintenance of muscle homeostasis is vital for life and health. Skeletal muscle atrophy
not only seriously reduces people's quality of life and increases morbidity and mortality, but …

The Rpd3/Hda1 family of lysine deacetylases: from bacteria and yeast to mice and men

XJ Yang, E Seto - Nature reviews Molecular cell biology, 2008 - nature.com
Protein lysine deacetylases have a pivotal role in numerous biological processes and can
be divided into the Rpd3/Hda1 and sirtuin families, each having members in diverse …