Results 121 to 130 of about 9,361 (152)

Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder. [PDF]

Neural Regen Res
Nelson CH, Pandey UB.
europepmc   +1 more source

AAV-based vectors for human diseases modeling in laboratory animals. [PDF]

Front Med (Lausanne)
Aliev TI, Yudkin DV.
europepmc   +1 more source

Navigating a complex dance: the interplay between RNA-binding proteins and T cells in oral epithelial plasticity. [PDF]

Immunometabolism (Cobham)
Vijayakumar A, Vasudevan S, John S, Ozbun MA, Bartee E, Palanisamy V.   +5 more
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 [PDF]

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.
Burt, Emma C., Towers, Paula R., Sattelle, David B.   +2 more
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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
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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.
Philip J. Young, Adrian G. Todd, Robert Morse, Howard Stebbings, Debra J. Shaw   +4 more
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The exonuclease ISG20 mainly localizes in the nucleolus and the Cajal (Coiled) bodies and is associated with nuclear SMN protein‐containing complexes

Journal of Cellular Biochemistry, 2006
AbstractWe have previously shown that ISG20, an interferon (IFN)‐induced gene, encodes a 3′ to 5′ exoribonuclease member of the DEDD superfamily of exonucleases. ISG20 specifically degrades single‐stranded RNA. In this report, using immunofluorescence analysis, we demonstrate that in addition to a diffuse cytoplasmic and nucleoplasmic localization, the
Espert, Lucile, Eldin, Patrick, Gongora, Céline, Bayard, Bernard, Harper, Francis, Chelbi-Alix, Mounira, Bertrand, Edouard, Degols, Geneviève, Mechti, Nadir   +8 more
openaire   +4 more sources

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells

Experimental Cell Research, 2005
Spinal muscular atrophy (SMA) is caused by reduced levels of SMN (survival of motor neurons protein) and consequent loss of motor neurons. SMN is involved in snRNP transport and nuclear RNA splicing, but axonal transport of SMN has also been shown to occur in motor neurons. SMN also binds to the small actin-binding protein, profilin.
Caroline Sewry, Arthur H.M. Burghes, Le thi Hao, Aarti Sharma, Thanh Le, Christophe Ampe, Anja Lambrechts, Glenn E. Morris   +7 more
openaire   +3 more sources