Results 101 to 110 of about 9,755 (237)

SMA Screening System Using Dried Blood Spots on Filter Paper: Application of COP-PCR to the SMN1 Deletion Test [PDF]

, 2014
BACKGROUND: Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutations in SMN1. More than 95% of SMA patients carry homozygous SMN1 deletions.
Kato, Nozomu, Haryana, Sofia Mubarika, Nurputra, Dian Kesumapramudya, Rochmah, Mawaddah Ar, Sato, Hideyuki, Saito, Kayoko, Sadewa, Ahmad Hamim, Astuti, Indwiani, Nishimura, Noriyuki, Sa'adah, Nihayatus, Harahap, Nur Imma Fatimah, Saito, Toshio   +11 more
core  

The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity

Journal of Neurochemistry, Volume 170, Issue 6, June 2026.
To survive a lifetime, neurons depend on a high‐fidelity logistics network powered by microtubule motors. We explore how a broad spectrum of genetic defects in this machinery drive a devastating spectrum of neurodevelopmental and neurodegenerative diseases, including Hereditary Spastic Paraplegia (HSP), Charcot–Marie‐Tooth Type 2 (CMT2), and ...
Emma D. Turner, Alison E. Twelvetrees
wiley   +1 more source

Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes

Scientific Reports
Spinal muscular atrophy (SMA) genes, SMN1 and SMN2 (hereinafter referred to as SMN1/2), produce multiple circular RNAs (circRNAs), including C2A–2B–3–4 that encompasses early exons 2A, 2B, 3 and 4.
Diou Luo, Eric W. Ottesen, Ji Heon Lee, Ravindra N. Singh   +3 more
doaj   +1 more source

Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug‐like compounds

EMBO Molecular Medicine, 2013
Spinal muscular atrophy (SMA) is a neurodegenerative disease that causes progressive muscle weakness, which primarily targets proximal muscles. About 95% of SMA cases are caused by the loss of both copies of the SMN1 gene. SMN2 is a nearly identical copy
Jonathan J. Cherry, Erkan Y. Osman, Matthew C. Evans, Sungwoon Choi, Xuechao Xing, Gregory D. Cuny, Marcie A. Glicksman, Christian L. Lorson, Elliot J. Androphy   +8 more
doaj   +1 more source

SMN1 functions as a novel inhibitor for TRAF6-mediated NF-κB signaling

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2017
Survival motor neuron (SMN) is a 38-kDa protein, whose deficiency in humans develops spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disease with muscular atrophy due to motor neuron death in the spinal cord. We now report that SMN prevents the activation of TRAF6 and IκB kinase (IKK) and thereby negatively regulates the NF-κB ...
Eun Kyung, Kim, Eui-Ju, Choi
openaire   +2 more sources

Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy

Taiwanese Journal of Obstetrics & Gynecology, 2005
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene on 5q13. It leads to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal ...
Shu-Chin Chien, Yi-Ning Su
doaj   +1 more source

The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy

, 2019
Introduction. Spinal muscular atrophy (SMA) is one of the most common genetic causes of death in infants due to a mutation of the motor neuron 1 (SMN1) gene. The SMN1 gene encodes for the multifunctional SMN protein.
Aqeel, Aqeel; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia, Alrafiah, Aziza; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia; Neuroscience Research Unit, Faculty of Medicine, King Abdul Aziz University, Jeddah, Saudi Arabia, Almashhadi, Sufana; National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia; Institute for Brain Research, Massachusetts Institute of Technology, Cambridge, USA, Awaji, Adel; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia, Alghanmi, Maimonah; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia   +4 more
core   +1 more source

Molecular-genetic study of SMN1 and SMN2 genes associated with spinal muscular atrophy in individuals with infertility prior to in vitro fertilization

Акушерство, гинекология и репродукция
Introduction. The rate of infertile couples comprises 17–24 % and tends to increase, with more of them turning to assisted reproductive technologies (ART).
E. V. Kudryavtseva, O. V. Lagutina, V. V. Kovalev, S. S. Deryabina, I. A. Zakharova, A. Yu. Cherepennikova   +5 more
doaj   +1 more source

379. CNS Delivery of Human SMN1 by Adeno-Associated Virus Is Highly Efficacious in a Mouse Model of Spinal Muscular Atrophy Type I [PDF]

, 2009

openalex   +1 more source

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy [PDF]

, 2020
Objective: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) and to correlate the severity of
Pereira, Maria Luiza Saraiva, Becker, Michele Michelin, Mendonça, Rodrigo de Holanda, Zanoteli, Edmar, Facchin, Ana Carolina Brusius, Saute, Jonas Alex Morales   +5 more
core   +1 more source