Results 161 to 170 of about 5,400 (185)

Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA. [PDF]

EMBO Mol Med
Stringer BW, Zhang Y, Taghipour-Sheshdeh A, Goh S, Kölbel H, Farrar MA, Wirth B, Giacomotto J.   +7 more
europepmc   +1 more source

RNA-binding proteins in disease etiology: fragile X syndrome and spinal muscular atrophy. [PDF]

RNA
Dreyfuss G.
europepmc   +1 more source

Biomarkers in spinal muscular atrophy. [PDF]

Front Neurol
Yan L, Zhang J, Zheng J, Hao H.
europepmc   +1 more source

Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies. [PDF]

Biology (Basel)
Vezzoli A, Bottai D, Adami R.
europepmc   +1 more source

Caenorhabditis elegans in the study of SMN-interacting proteins: a role for SMI-1, an orthologue of human Gemin2 and the identification of novel components of the SMN complex

Invertebrate Neuroscience, 2006
Spinal muscular atrophy is a common neuromuscular disorder caused by mutations in the survival motor neuron (SMN) gene. In mammals, SMN is tightly associated with Gemin2. To gain further insight into the functions of SMN and Gemin2, we have cloned and sequenced smi-1 (Survival of Motor neuron-Interacting protein 1), a C.
David B Sattelle, Sattelle David B
exaly   +5 more sources

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SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules

Biochemical and Biophysical Research Communications, 2010
Childhood spinal muscular atrophy (SMA) is caused by a reduction in survival motor neuron (SMN) protein. SMN is expressed in every cell type, but it is predominantly the lower motor neurones of the spinal cord that degenerate in SMA. SMN has been linked to the axonal transport of beta-actin mRNA, a breakdown in which could trigger disease onset.
Adrian G Todd, Debra J Shaw, Robert Morse   +2 more
exaly   +3 more sources

The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration

International Journal of Molecular Sciences, 2023
In the cell, RNA exists and functions in a complex with RNA binding proteins (RBPs) that regulate each step of the RNA life cycle from transcription to degradation.
Irène Faravelli, Paola Rinchetti, Francesco Lotti   +2 more
exaly   +2 more sources

Phosphoregulation of the human SMN complex

European Journal of Cell Biology, 2014
The survival motor neuron (SMN) complex is a macromolecular machine comprising 9 core proteins: SMN, Gemins2–8 and unrip in vertebrates. It performs tasks in RNA metabolism including the cytoplasmic assembly of spliceosomal small nuclear ...
Ashwin Chari, Utz Fischer, Henrik Daub   +2 more
exaly   +2 more sources

The SMN–SIP1 Complex Has an Essential Role in Spliceosomal snRNP Biogenesis

Cell, 1997
Spinal muscular atrophy (SMA) is an often fatal neuromuscular disease that has been directly linked to the protein product of the Survival of Motor Neurons (SMN) gene.
Utz Fischer, Gideon Dreyfuss
exaly   +2 more sources

A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses

Neuron, 2023
Reduced survival motor neuron (SMN) protein triggers the motor neuron disease, spinal muscular atrophy (SMA). Restoring SMN prevents disease, but it is not known how neuromuscular function is preserved. We used model mice to map and identify an Hspa8G470R synaptic chaperone variant, which suppressed SMA.
Jeong-Ki, Kim, Narendra N, Jha, Tomoyuki, Awano, Charlotte, Caine, Kishore, Gollapalli, Emily, Welby, Seung-Soo, Kim, Andrea, Fuentes-Moliz, Xueyong, Wang, Zhihua, Feng, Fusako, Sera, Taishi, Takeda, Shunichi, Homma, Chien-Ping, Ko, Lucia, Tabares, Allison D, Ebert, Mark M, Rich, Umrao R, Monani   +17 more
openaire   +2 more sources