Found: 25
Select item for more details and to access through your institution.
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
- Published in:
- Life Science Alliance, 2022, v. 5, n. 7, p. 1, doi. 10.26508/lsa.202201403
- By:
- Publication type:
- Article
Apolipoprotein B-100 XbaI gene polymorphism in gallbladder cancer.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 280, doi. 10.1007/s00439-003-1056-8
- By:
- Publication type:
- Article
Skeletal Muscle Pathogenesis in Polyglutamine Diseases.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 13, p. N.PAG, doi. 10.3390/cells11132105
- By:
- Publication type:
- Article
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 2, p. 325, doi. 10.3390/cells9020325
- By:
- Publication type:
- Article
HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS.
- Published in:
- Nature, 2007, v. 447, n. 7146, p. 860, doi. 10.1038/nature05853
- By:
- Publication type:
- Article
RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 6, p. 1193, doi. 10.1093/hmg/dds526
- By:
- Publication type:
- Article
A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2510, doi. 10.1093/hmg/ddr150
- By:
- Publication type:
- Article
Drosha-dependent microRNAs modulate FUS-mediated neurodegeneration in vivo.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. 20, p. 11258, doi. 10.1093/nar/gkad774
- By:
- Publication type:
- Article
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
- Published in:
- Acta Neuropathologica, 2023, v. 146, n. 3, p. 477, doi. 10.1007/s00401-023-02607-8
- By:
- Publication type:
- Article
DDX17 is involved in DNA damage repair and modifies FUS toxicity in an RGG-domain dependent manner.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 3, p. 515, doi. 10.1007/s00401-021-02333-z
- By:
- Publication type:
- Article
RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01060-y
- By:
- Publication type:
- Article
RNA-recognition motif in Matrin-3 mediates neurodegeneration through interaction with hnRNPM.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01021-5
- By:
- Publication type:
- Article
Defects in Synapse Structure and Function Precede Motor Neuron Degeneration in Drosophila Models of FUS-Related ALS.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 50, p. 19590, doi. 10.1523/JNEUROSCI.3396-13.2013
- By:
- Publication type:
- Article
Protein Arginine Methyltransferase 1 and 8 Interact with FUS to Modify Its Sub-Cellular Distribution and Toxicity <i>In Vitro</i> and <i>In Vivo</i>.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061576
- By:
- Publication type:
- Article
MATR3 pathogenic variants differentially impair its cryptic splicing repression function.
- Published in:
- FEBS Letters, 2024, v. 598, n. 4, p. 415, doi. 10.1002/1873-3468.14806
- By:
- Publication type:
- Article
Mutational spectrum of K-ras oncogene among Indian patients with gallbladder cancer.
- Published in:
- Journal of Gastroenterology & Hepatology, 2004, v. 19, n. 8, p. 916, doi. 10.1111/j.1440-1746.2004.03355.x
- By:
- Publication type:
- Article
Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization.
- Published in:
- Nature Communications, 2019, p. 1, doi. 10.1038/s41467-019-13383-z
- By:
- Publication type:
- Article
Axon guidance genes modulate neurotoxicity of ALS-associated UBQLN2.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.84382
- By:
- Publication type:
- Article
Traumatic injury induces stress granule formation and enhances motor dysfunctions in ALS/FTD models.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 8, p. 1366, doi. 10.1093/hmg/ddy047
- By:
- Publication type:
- Article
Mutation-dependent aggregation and toxicity in a Drosophila model for UBQLN2-associated ALS.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 2, p. 322, doi. 10.1093/hmg/ddx403
- By:
- Publication type:
- Article
Nuclear localized C9orf72-associated argininecontaining dipeptides exhibit age-dependent toxicity in C. elegans.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4916, doi. 10.1093/hmg/ddx372
- By:
- Publication type:
- Article
The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3908, doi. 10.1093/hmg/ddw232
- By:
- Publication type:
- Article
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2932, doi. 10.1002/ajmg.a.62894
- By:
- Publication type:
- Article
Editorial: Drosophila as a model to study neurodegenerative diseases.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1275253
- By:
- Publication type:
- Article
Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand.
- Published in:
- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00263
- By:
- Publication type:
- Article