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 …

The identification of novel biomarkers is required to improve adult SMA patient stratification, diagnosis and treatment

P Smeriglio, P Langard, G Querin, MG Biferi - Journal of personalized …, 2020 - mdpi.com
Spinal muscular atrophy (SMA) is currently classified into five different subtypes, from the
most severe (type 0) to the mildest (type 4) depending on age at onset, best motor function …

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy

I Cuscó, S Bernal, L Blasco-Pérez, M Calucho… - Neurology …, 2020 - AAN Enterprises
Objective Assessment of SMN2 copy number in patients with spinal muscular atrophy (SMA)
is essential to establish careful genotype-phenotype correlations and predict disease …

Drug screening and drug repositioning as promising therapeutic approaches for spinal muscular atrophy treatment

G Menduti, DM Rasà, S Stanga, M Boido - Frontiers in pharmacology, 2020 - frontiersin.org
Spinal muscular atrophy (SMA) is the most common genetic disease affecting infants and
young adults. Due to mutation/deletion of the survival motor neuron (SMN) gene, SMA is …

Recommendations for interpreting and reporting silent carrier and disease-modifying variants in SMA testing workflows

JN Milligan, L Blasco-Pérez, M Costa-Roger… - Genes, 2022 - mdpi.com
Genetic testing for SMA diagnosis, newborn screening, and carrier screening has become a
significant public health interest worldwide, driven largely by the development of novel and …

Clinical and radiological profile of patients with spinal muscular atrophy type 4

PVS Souza, W Pinto, A Ricarte… - European Journal of …, 2021 - Wiley Online Library
Background and purpose Spinal muscular atrophy (SMA) is the most important cause of
motor neuron disease in childhood, and continues to represent the leading genetic cause of …

The relationship between body composition, fatty acid metabolism and diet in spinal muscular atrophy

KS Watson, I Boukhloufi, M Bowerman, SH Parson - Brain Sciences, 2021 - mdpi.com
Spinal muscular atrophy (SMA) is an autosomal recessive condition that results in
pathological deficiency of the survival motor neuron (SMN) protein. SMA most frequently …

[HTML][HTML] Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex

T Petrozziello, AN Mills, CA Vaine, EB Penney… - Neurobiology of …, 2020 - Elsevier
Neuroinflammation plays a pathogenic role in neurodegenerative diseases and recent
findings suggest that it may also be involved in X-linked Dystonia-Parkinsonism (XDP) …

Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model

M Bersani, M Rizzuti, E Pagliari, M Garbellini… - Molecular Therapy, 2022 - cell.com
Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of
infant mortality. Recently approved SMA therapies have transformed a deadly disease into a …

Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures

V Aponte Ribero, Y Martí, S Batson, S Mitchell, K Gorni… - Neurology, 2023 - AAN Enterprises
Background and Objectives Spinal muscular atrophy (SMA) is a progressive neuromuscular
disorder associated with continuous motor function loss and complications, such as scoliosis …