Results 41 to 50 of about 10,068 (192)

Similarities between protein folding and granular jamming. [PDF]

, 2012
Grains and glasses, widely different materials, arrest their motions upon decreasing temperature and external load, respectively, in common ways, leading to a universal jamming phase diagram conjecture.
Andricioaei, Ioan, Jose, Prasanth P
core   +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

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

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili, Antonio Musarò, Arnold, Biamonte, Bianchi, Bielli, Bielli, Bose, Branchu, Bricceno, Burnett, Bäumer, Cai, Chen, Cho, Claudio Sette, Ehrmann, Feng, Fu, Galarneau, Hofmann, Hofmann, Hua, Huot, Iascone, Iijima, Kashima, Kashima, Laura Pelosi, Le, Li, Ling, Lorson, Lukong, Mammucari, Marcello D’Amelio, Maria Blaire Bustamante, Maria Grazia Berardinelli, Mende, Nurputra, Paronetto, Paronetto, Pedrotti, Pedrotti, Richard, Ruggiu, Shababi, Singh, Vittoria Pagliarini, Wahl, West, Zhang   +51 more
core   +2 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

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]

, 2013
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H., Hunter, G., Lamont, D. J., Mutsaers, C. A., Wishart, T. M.   +4 more
core   +3 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

Structural basis for dual roles of Aar2p in U5 snRNP assembly [PDF]

, 2013
Yeast U5 small nuclear ribonucleoprotein particle (snRNP) is assembled via a cytoplasmic precursor that contains the U5-specific Prp8 protein but lacks the U5-specific Brr2 helicase.
Beggs, J.D., Cristão, V.F., Heroven, A.C., Holton, N., Jovin, S.M., Lührmann, R., Santos, K.F., Wahl, M.C., Weber, G.   +8 more
core   +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