Sökning: WFRF:(Lindquist Suzanne G)
> Budtz Jørgensen Esben >
TMEM106B and ApoE p...
TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)
-
- Rostgaard, Nina (författare)
- University of Copenhagen
-
- Roos, Peter (författare)
- University of Copenhagen
-
- Budtz-Jørgensen, Esben (författare)
- University of Copenhagen
-
visa fler...
-
- Johannsen, Peter (författare)
- University of Copenhagen
-
- Waldemar, Gunhild (författare)
- University of Copenhagen
-
- Nørremølle, Anne (författare)
- University of Copenhagen
-
- Lindquist, Suzanne G. (författare)
- University of Copenhagen
-
Gydesen, Susanne (författare)
-
- Brown, Jeremy M. (författare)
- Addenbrooke's Hospital
-
- Collinge, John (författare)
- University College London
-
- Isaacs, Adrian M. (författare)
- University College London
-
- Nielsen, Troels T. (författare)
- University of Copenhagen
-
- Nielsen, Jørgen E. (författare)
- University of Copenhagen
-
- Englund, E. (creator_code:cre_t)
- Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
-
visa färre...
-
(creator_code:org_t)
-
- Elsevier BV, 2017
- 2017
- Engelska.
-
Ingår i: Neurobiology of Aging. - : Elsevier BV. - 0197-4580. ; 59, s. 1-221
- Relaterad länk:
-
http://dx.doi.org/10...
-
visa fler...
-
https://discovery.uc...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Single-nucleotide polymorphisms in the TMEM106B gene have been identified as a risk factor in frontotemporal dementia (FTD). The major allele of SNP rs3173615 is a risk factor in sporadic FTD, whereas the minor allele seems protective in GRN- and C9orf72-mediated FTD. The role of apolipoprotein E (ApoE) in FTD is uncertain, though an established risk factor in Alzheimer's disease. In a unique Danish family, inherited FTD is caused by a mutation in the CHMP2B gene located on chromosome 3 (FTD-3). In this family, both risk factors TMEM106B and ApoE were analyzed and correlated to age at onset (AAO) and progression in terms of age at institutionalization (AAI) and age at death (AAD). Although TMEM106B and CHMP2B share cellular function in that both localize to endolysosomes, TMEM106B genotypes appeared to have no influence on the clinical disease course. ApoE ε4 was found to be a protective factor with later AAO and AAI, whereas ε2 seemed to aggravate the disease with earlier AAO and AAD. These results indicate ApoE ε2 as a risk factor in FTD-3 and suggest a protective role of ε4.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- ApoE
- Autosomal dominantly inherited frontotemporal dementia
- CHMP2B
- FTD-3
- SNP rs3173615
- TMEM106B
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Rostgaard, Nina
-
Roos, Peter
-
Budtz-Jørgensen, ...
-
Johannsen, Peter
-
Waldemar, Gunhil ...
-
Nørremølle, Anne
-
visa fler...
-
Lindquist, Suzan ...
-
Gydesen, Susanne
-
Brown, Jeremy M.
-
Collinge, John
-
Isaacs, Adrian M ...
-
Nielsen, Troels ...
-
Nielsen, Jørgen ...
-
Englund, E.
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Klinisk medicin
-
och Neurologi
- Artiklar i publikationen
-
Neurobiology of ...
- Av lärosätet
-
Lunds universitet