Results 41 to 50 of about 5,400 (185)

Structural basis for the recognition of spliceosomal SmN/B/B’ proteins by the RBM5 OCRE domain in splicing regulation

eLife, 2016
The multi-domain splicing factor RBM5 regulates the balance between antagonistic isoforms of the apoptosis-control genes FAS/CD95, Caspase-2 and AID. An OCRE (OCtamer REpeat of aromatic residues) domain found in RBM5 is important for alternative splicing
André Mourão, Sophie Bonnal, Komal Soni, Lisa Warner, Rémy Bordonné, Juan Valcárcel, Michael Sattler   +6 more
doaj   +1 more source

Pseudophosphorylated αB-crystallin is a nuclear chaperone imported into the nucleus with help of the SMN complex. [PDF]

PLoS ONE, 2013
The human small heat shock protein αB-crystallin (HspB5) is a molecular chaperone which is mainly localized in the cytoplasm. A small fraction can also be found in nuclear speckles, of which the localization is mediated by successional phosphorylation at
John den Engelsman, Chantal van de Schootbrugge, Jeongsik Yong, Ger J M Pruijn, Wilbert C Boelens   +4 more
doaj   +1 more source

SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1 [PDF]

Scientific Reports, 2019
AbstractThe predominant motor neuron disease in infants and adults is spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), respectively. SMA is caused by insufficient levels of the Survival Motor Neuron (SMN) protein, which operates as part of the multiprotein SMN complex that includes the DEAD-box RNA helicase Gemin3/DDX20/DP103 ...
Rebecca Cacciottolo, Joanna Ciantar, Maia Lanfranco, Rebecca M. Borg, Neville Vassallo, Rémy Bordonné, Ruben J. Cauchi   +6 more
openaire   +3 more sources

Identification of gemin5 as a novel 7-methylguanosine cap-binding protein. [PDF]

PLoS ONE, 2009
A unique attribute of RNA molecules synthesized by RNA polymerase II is the presence of a 7-methylguanosine (m(7)G) cap structure added co-transcriptionally to the 5' end.
Shelton S Bradrick, Matthias Gromeier
doaj   +1 more source

Sporadic amyotrophic lateral sclerosis: is SMN-Gemins protein complex of importance for the relative resistance of oculomotor nucleus motoneurons to degeneration? [PDF]

Folia Neuropathologica, 2018
Lower motoneurons (MNs) show varied vulnerability in amyotrophic lateral sclerosis (ALS): those of non-ocular brainstem nuclei and most of those of the spinal cord are highly vulnerable, while those of extraocular brainstem nuclei are quite resistant. Results of our former study on the immunoexpression of the survival of motor neuron protein (SMN) and ...
Dorota Sulejczak, Stanisław J. Chrapusta, Dorota Dziewulska, Janina Rafałowska   +3 more
openaire   +3 more sources

Gemin4 is an essential gene in mice, and its overexpression in human cells causes relocalization of the SMN complex to the nucleoplasm

Biology Open, 2018
Gemin4 is a member of the Survival Motor Neuron (SMN) protein complex, which is responsible for the assembly and maturation of Sm-class small nuclear ribonucleoproteins (snRNPs).
Ingo D. Meier, Michael P. Walker, A. Gregory Matera   +2 more
doaj   +1 more source

Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy

Cell Death and Disease, 2023
The approved gene therapies for spinal muscular atrophy (SMA), caused by loss of survival motor neuron 1 (SMN1), greatly ameliorate SMA natural history but are not curative.
Francesco Chemello, Michela Pozzobon, Lorenza Iolanda Tsansizi, Tatiana Varanita, Rubèn Quintana-Cabrera, Daniele Bonesso, Martina Piccoli, Gerolamo Lanfranchi, Marta Giacomello, Luca Scorrano, Camilla Bean   +10 more
doaj   +1 more source

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case. [PDF]

Clin Case Rep
Visualization of ZPR1 protein variants. ABSTRACT We report the case of a 13‐month‐old female with multiple congenital anomalies including microcephaly, generalized hypotonia, sensorineural hearing loss, visual impairment, alopecia, and hypoplastic kidneys with chronic kidney disease, and dysmorphic craniofacial features.
Verdi G, Foksinska A, Nichols EL, Schmit EO, Watson A, Eckenrode M, Robin NH.   +6 more
europepmc   +2 more sources

Absence of gemin5 from SMN complexes in nuclear Cajal bodies

BMC Cell Biology, 2007
Background Spinal muscular atrophy is caused by reduced levels of the survival of motor neurons (SMN) protein. SMN is found in large complexes with Sm proteins and at least eight other proteins, including seven "gemins".
Burghes Arthur HM, Le Thanh T, Lam Le Thanh, Fuller Heidi R, Hao Le thi, Morris Glenn E   +5 more
doaj   +1 more source

Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila, providing new insights into spinal muscular atrophy

Neurobiology of Disease, 2016
The neuromuscular disorder, spinal muscular atrophy (SMA), results from insufficient levels of the survival motor neuron (SMN) protein. Together with Gemins 2–8 and Unrip, SMN forms the large macromolecular SMN-Gemins complex, which is known to be ...
Rebecca M. Borg, Benji Fenech Salerno, Neville Vassallo, Rémy Bordonne, Ruben J. Cauchi   +4 more
doaj   +1 more source