Results 271 to 280 of about 174,614,231 (302)

Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins

Biosensors and Bioelectronics, 2018
Simultaneous and point-of-care detection of multiple protein biomarkers has significant impact on patient care. Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF) and Duchenne Muscular Dystrophy (DMD) are well known progressive hereditary disorders associated with increased morbidity as well as mortality.
Shimaa, Eissa, Nawal, Alshehri, Mai, Abduljabbar, Anas M Abdel, Rahman, Majed, Dasouki, Imran Y, Nizami, Mohammad A, Al-Muhaizea, Mohammed, Zourob   +7 more
openaire   +3 more sources

Decreased function of survival motor neuron protein impairs endocytic pathways [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 2016
Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN) protein, with 1 in 40 Caucasians being heterozygous for a disease allele.
Anne Hart, David Hall, George Poulogiannis   +2 more
exaly   +2 more sources

Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion.

Journal of Child Neurology, 2004
A boy with nonreducible bilateral congenital talipes equinovarus had delayed milestones with early-onset generalized hypotonia and muscular weakness. The condition remained stable until he was 8 years old.
B. Echenne, F. Rivier, A. Roubertie, Nancy Carson   +3 more
semanticscholar   +1 more source

Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice

Neurobiology of Aging, 2014
Spinal muscular atrophy results from diminished levels of survival motor neuron (SMN) protein in spinal motor neurons. Low levels of SMN also occur in models of amyotrophic lateral sclerosis (ALS) caused by mutant superoxide dismutase 1 (SOD1) and ...
Kevin Talbot, Bradley Turner, Kay Davies   +2 more
exaly   +2 more sources

Stabilization of the survival motor neuron protein by ASK1 [PDF]

FEBS Letters, 2011
The survival motor neuron (SMN) is a spliceosomal snRNP-interacting protein that was initially identified as a defective molecule in spinal muscular atrophy (SMA). The disease severity of SMA is determined by SMN protein level.
Eui-Ju Choi
exaly   +2 more sources

Molecular docking and dynamics simulation studies to identify the phytochemicals as lead molecules against the survival motor neuron 1 (SMN1) protein of spinal muscular atrophy

Medicinal Plants - International Journal of Phytomedicines and Related Industries
Spinal Muscular Atrophy is an autosomal recessive neuromuscular disorder resulting from deletions or mutations in the survival motor neuron (SMN1) gene. Loss of lower motor neurons (anterior horn cells) in the brainstem and spinal cord nuclei is a characteristic of SMA, which causes gradual symmetrical muscular weakening and atrophy.
Pankaj Bagga, Sudhakar Singh, Indu Kumari, Sandeep Swargam   +3 more
openaire   +1 more source

Spinal Muscular Atrophy and the Antiapoptotic Role of Survival of Motor Neuron (SMN) Protein

Molecular Neurobiology, 2013
Spinal muscular atrophy (SMA) is a devastating and often fatal neurodegenerative disease that affects spinal motor neurons and leads to progressive muscle wasting and paralysis.
Ryan Anderton, Bruno Meloni, Sherif Boulos   +2 more
exaly   +1 more source

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.

Human Molecular Genetics, 2001
S. Jablonka, M. Bandilla, S. Wiese, D. Bühler, B. Wirth, M. Sendtner, U. Fischer   +6 more
semanticscholar   +1 more source