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1993 2
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1,087 results

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Page 1
C9orf72-mediated ALS and FTD: multiple pathways to disease.
Balendra R, Isaacs AM. Balendra R, et al. Nat Rev Neurol. 2018 Sep;14(9):544-558. doi: 10.1038/s41582-018-0047-2. Nat Rev Neurol. 2018. PMID: 30120348 Free PMC article. Review.
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized our understanding of these diseases. ...In this article, we review the pathologica …
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of amyotrophic lateral sclerosis (ALS) and fr …
Amyotrophic lateral sclerosis: a clinical review.
Masrori P, Van Damme P. Masrori P, et al. Eur J Neurol. 2020 Oct;27(10):1918-1929. doi: 10.1111/ene.14393. Epub 2020 Jul 7. Eur J Neurol. 2020. PMID: 32526057 Free PMC article. Review.
In 10%-15% of patients, these problems are severe enough to meet the clinical criteria of frontotemporal dementia (FTD). In 10% of ALS patients, the family history suggests an autosomal dominant inheritance pattern. ...These expansions are also a frequent cau …
In 10%-15% of patients, these problems are severe enough to meet the clinical criteria of frontotemporal dementia (FTD). In 10 …
Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia.
Lall D, Baloh RH. Lall D, et al. J Clin Invest. 2017 Sep 1;127(9):3250-3258. doi: 10.1172/JCI90607. Epub 2017 Jul 24. J Clin Invest. 2017. PMID: 28737506 Free PMC article. Review.
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder that is characterized by loss of motor neurons and shows clinical, pathological, and genetic overlap with frontotemporal dementia (FTD). ...This Review highlights the contribution of microglia to …
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder that is characterized by loss of motor neurons and shows clinical, pat …
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R. DeJesus-Hernandez M, et al. Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944778 Free PMC article.
Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. ...Our findings indicate that repeat expansion in C9ORF72 is a major cause of both …
Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis ( …
Stress Granule Assembly Disrupts Nucleocytoplasmic Transport.
Zhang K, Daigle JG, Cunningham KM, Coyne AN, Ruan K, Grima JC, Bowen KE, Wadhwa H, Yang P, Rigo F, Taylor JP, Gitler AD, Rothstein JD, Lloyd TE. Zhang K, et al. Cell. 2018 May 3;173(4):958-971.e17. doi: 10.1016/j.cell.2018.03.025. Epub 2018 Apr 5. Cell. 2018. PMID: 29628143 Free PMC article.
Defects in nucleocytoplasmic transport have been identified as a key pathogenic event in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) mediated by a GGGGCC hexanucleotide repeat expansion in C9ORF72, the most common genetic caus …
Defects in nucleocytoplasmic transport have been identified as a key pathogenic event in amyotrophic lateral sclerosis (ALS) and f …
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
Shi Y, Lin S, Staats KA, Li Y, Chang WH, Hung ST, Hendricks E, Linares GR, Wang Y, Son EY, Wen X, Kisler K, Wilkinson B, Menendez L, Sugawara T, Woolwine P, Huang M, Cowan MJ, Ge B, Koutsodendris N, Sandor KP, Komberg J, Vangoor VR, Senthilkumar K, Hennes V, Seah C, Nelson AR, Cheng TY, Lee SJ, August PR, Chen JA, Wisniewski N, Hanson-Smith V, Belgard TG, Zhang A, Coba M, Grunseich C, Ward ME, van den Berg LH, Pasterkamp RJ, Trotti D, Zlokovic BV, Ichida JK. Shi Y, et al. Nat Med. 2018 Mar;24(3):313-325. doi: 10.1038/nm.4490. Epub 2018 Feb 5. Nat Med. 2018. PMID: 29400714 Free PMC article.
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic mechanism of this repeat remains unclear. Using human induced motor neurons (iMNs), we …
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontote …
Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia.
Marques C, Held A, Dorfman K, Sung J, Song C, Kavuturu AS, Aguilar C, Russo T, Oakley DH, Albers MW, Hyman BT, Petrucelli L, Lagier-Tourenne C, Wainger BJ. Marques C, et al. Acta Neuropathol. 2024 Mar 13;147(1):56. doi: 10.1007/s00401-024-02688-z. Acta Neuropathol. 2024. PMID: 38478117 Free PMC article.
Concordant STING activation in layer V cortical motor neurons occurs in a mouse model of C9orf72 repeat-associated ALS and frontotemporal dementia (FTD). To establish that STING activation occurs in a neuron-autonomous manner, we demonstrate the integr …
Concordant STING activation in layer V cortical motor neurons occurs in a mouse model of C9orf72 repeat-associated ALS and …
Disruption of nuclear speckle integrity dysregulates RNA splicing in C9ORF72-FTD/ALS.
Wu R, Ye Y, Dong D, Zhang Z, Wang S, Li Y, Wright N, Redding-Ochoa J, Chang K, Xu S, Tu X, Zhu C, Ostrow LW, Roca X, Troncoso JC, Wu B, Sun S. Wu R, et al. Neuron. 2024 Oct 23;112(20):3434-3451.e11. doi: 10.1016/j.neuron.2024.07.025. Epub 2024 Aug 23. Neuron. 2024. PMID: 39181135 Free PMC article.
Expansion of an intronic (GGGGCC)n repeat within the C9ORF72 gene is the most common genetic cause of both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) (C9-FTD/ALS), characterized with aberrant repeat RNA foci and noncan …
Expansion of an intronic (GGGGCC)n repeat within the C9ORF72 gene is the most common genetic cause of both frontotemporal d …
PTPsigma-mediated PI3P regulation modulates neurodegeneration in C9ORF72-ALS/FTD.
Zhang Z, Fu X, Wright N, Wang W, Ye Y, Asbury J, Li Y, Zhu C, Wu R, Wang S, Sun S. Zhang Z, et al. Neuron. 2025 Apr 16;113(8):1190-1205.e9. doi: 10.1016/j.neuron.2025.02.005. Epub 2025 Mar 11. Neuron. 2025. PMID: 40073860 Free PMC article.
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the repeat expansion in C9ORF72. Dipeptide repeat (DPR) proteins translated from both sense and antisense repeats, especially arginine-rich DPRs ( …
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the repeat ex …
Decoding ALS: from genes to mechanism.
Taylor JP, Brown RH Jr, Cleveland DW. Taylor JP, et al. Nature. 2016 Nov 10;539(7628):197-206. doi: 10.1038/nature20413. Nature. 2016. PMID: 27830784 Free PMC article. Review.
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative disease. A plethora of genetic factors have been identified that drive the degeneration of motor neurons in ALS, increase susceptibility to the disease or influence the rate o …
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative disease. A plethora of genetic factors hav …
1,087 results