Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2014 4
2015 5
2016 9
2017 6
2018 11
2019 4
2020 5
2021 6
2022 3
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

48 results

Results by year

Filters applied: . Clear all
Page 1
Autophagy and ALS: mechanistic insights and therapeutic implications.
Chua JP, De Calbiac H, Kabashi E, Barmada SJ. Chua JP, et al. Autophagy. 2022 Feb;18(2):254-282. doi: 10.1080/15548627.2021.1926656. Epub 2021 May 31. Autophagy. 2022. PMID: 34057020 Free PMC article. Review.
This review thereby provides a framework not only to guide further investigations of neuronal autophagy but also to refine therapeutic strategies for ALS and related neurodegenerative diseases.Abbreviations: ALS: amyotrophic lateral sclerosis; Atg: autophagy-related; CHMP2B …
This review thereby provides a framework not only to guide further investigations of neuronal autophagy but also to refine therapeutic strat …
The role of CHMP2B(Intron5) in autophagy and frontotemporal dementia.
Krasniak CS, Ahmad ST. Krasniak CS, et al. Brain Res. 2016 Oct 15;1649(Pt B):151-157. doi: 10.1016/j.brainres.2016.02.051. Epub 2016 Mar 10. Brain Res. 2016. PMID: 26972529 Free PMC article. Review.
A dominant mutation in CHMP2B (CHMP2B(Intron5)) is associated with a subset of heritable frontotemporal dementia - frontotemporal dementia linked to chromosome 3 (FTD-3). ...CHMP2B is expressed in most cell types but seems to be especially vital for proper ne …
A dominant mutation in CHMP2B (CHMP2B(Intron5)) is associated with a subset of heritable frontotemporal dementia - frontotempo …
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.
Thus, modulating vesicle trafficking was able to rescue neurodegeneration caused by the C9ORF72 repeat expansion. Coupled with rare mutations in ALS2, FIG4, CHMP2B, OPTN and SQSTM1, our results reveal mechanistic convergence on vesicle trafficking in ALS and FTD....
Thus, modulating vesicle trafficking was able to rescue neurodegeneration caused by the C9ORF72 repeat expansion. Coupled with rare mutation …
Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis.
Ugbode C, West RJH. Ugbode C, et al. Neurobiol Dis. 2021 Jan;147:105144. doi: 10.1016/j.nbd.2020.105144. Epub 2020 Nov 2. Neurobiol Dis. 2021. PMID: 33144171 Free article. Review.
Dysfunctional endo-lysosomal and autophagic trafficking, leading to impaired proteostasis is common across the FTD-ALS spectrum. These pathways are, in part, mediated by CHMP2B, a protein that coordinates membrane scission events as a core component of the ESCRT machinery. …
Dysfunctional endo-lysosomal and autophagic trafficking, leading to impaired proteostasis is common across the FTD-ALS spectrum. These pathw …
Genetics of Frontotemporal Dementia.
Olszewska DA, Lonergan R, Fallon EM, Lynch T. Olszewska DA, et al. Curr Neurol Neurosci Rep. 2016 Dec;16(12):107. doi: 10.1007/s11910-016-0707-9. Curr Neurol Neurosci Rep. 2016. PMID: 27878525 Review.
C9orf72 mutations are the most common and account for 25%. Rarer mutations (<5%) occur in other genes such as VPC, CHMP2B, TARDP, FUS, ITM2B, TBK1 and TBP. The diagnosis is often challenging due to symptom overlap with AD and other conditions. ...
C9orf72 mutations are the most common and account for 25%. Rarer mutations (<5%) occur in other genes such as VPC, CHMP2B, TARDP, …
Genetics of dementia in a Finnish cohort.
Pasanen P, Myllykangas L, Pöyhönen M, Kiviharju A, Siitonen M, Hardy J, Bras J, Paetau A, Tienari PJ, Guerreiro R, Verkkoniemi-Ahola A. Pasanen P, et al. Eur J Hum Genet. 2018 Jun;26(6):827-837. doi: 10.1038/s41431-018-0117-3. Epub 2018 Feb 23. Eur J Hum Genet. 2018. PMID: 29476165 Free PMC article.
Inherited FTD can be caused by hexanucleotide expansions in C9orf72, or variants in GRN, MAPT or CHMP2B. Several other genes have also been linked to FTD or FTD with motor neuron disease. ...
Inherited FTD can be caused by hexanucleotide expansions in C9orf72, or variants in GRN, MAPT or CHMP2B. Several other genes have als …
Parkinsonian syndrome in familial frontotemporal dementia.
Siuda J, Fujioka S, Wszolek ZK. Siuda J, et al. Parkinsonism Relat Disord. 2014 Sep;20(9):957-64. doi: 10.1016/j.parkreldis.2014.06.004. Epub 2014 Jun 13. Parkinsonism Relat Disord. 2014. PMID: 24998994 Free PMC article. Review.
Since then, mutations in several other genes have been identified for FTD with parkinsonism, including chromosome 9 open reading frame 72 (C9ORF72), chromatin modifying protein 2B (CHMP2B), valosin-containing protein (VCP), fused in sarcoma (FUS …
Since then, mutations in several other genes have been identified for FTD with parkinsonism, including chromosome 9 open reading frame 72 (C …
Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.
Tang SS, Li J, Tan L, Yu JT. Tang SS, et al. J Alzheimers Dis. 2016 Apr 19;52(4):1157-76. doi: 10.3233/JAD-160236. J Alzheimers Dis. 2016. PMID: 27104909 Review.
In this review, we summarize most common mutations in MAPT, GRN, and C90RF72, as well as less common mutations in VCP, CHMP2B, TARDBP, FUS gene and so on. Several guidelines have been developed to help gene testing based on genotype-phenotype correlation, the underlying hi …
In this review, we summarize most common mutations in MAPT, GRN, and C90RF72, as well as less common mutations in VCP, CHMP2B, TARDBP …
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
Roos P, Johannsen P, Lindquist SG, Brown JM, Waldemar G, Duno M, Nielsen TT, Budtz-Jørgensen E, Gydesen S, Holm IE, Collinge J, Isaacs AM; Frontotemporal dementia Research in Jutland Association (FReJA) consortium; Nielsen JE. Roos P, et al. Acta Neurol Scand. 2022 May;145(5):529-540. doi: 10.1111/ane.13578. Epub 2022 Jan 8. Acta Neurol Scand. 2022. PMID: 34997757
MATERIALS AND METHODS: Demographic and lifestyle factors were assessed in survival analysis in all identified CHMP2B mutation carriers (44 clinically affected FTD-3 patients and 16 presymptomatic CHMP2B mutation carriers). ...Predictive genetic testing was chosen by …
MATERIALS AND METHODS: Demographic and lifestyle factors were assessed in survival analysis in all identified CHMP2B mutation carrier …
Recent advances in the molecular genetics of frontotemporal lobar degeneration.
Rainero I, Rubino E, Michelerio A, D'Agata F, Gentile S, Pinessi L. Rainero I, et al. Funct Neurol. 2017 Jan/Mar;32(1):7-16. doi: 10.11138/fneur/2017.32.1.007. Funct Neurol. 2017. PMID: 28380318 Free PMC article. Review.
Genetic variants in three genes, MAPT, GRN and C9orf72, account for about half of familial FTLD cases. In addition, rare defects in the CHMP2B, VCP, TARDBP, SQSTM1, FUS, UBQLN, OPTN, TREM2, CHCHD10 and TBK1 genes have been described. ...
Genetic variants in three genes, MAPT, GRN and C9orf72, account for about half of familial FTLD cases. In addition, rare defects in the C …
48 results