TAR DNA-binding protein 43 (TDP-43) inclusions are pathological hallmarks of patients with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Loss of TDP-43 in zebrafish engenders a severe muscle and vascular phenotype with a concomitant elevation of filamin C (FLNC) levels, an observation confirmed in the frontal cortex of FTLD-TDP patients. Here, we aimed to further assess the contribution of FLNC to frontotemporal dementia (FTD) etiology. We conducted a mutational screening of FLNC in a cohort of 529 unrelated Belgian FTD and FTD-ALS patients, and a control co... Mehr ...
| Verfasser: |
Janssens, Jonathan
Philtjens, Stephanie
Kleinberger, Gernot
Van Mossevelde, Sara
van der Zee, Julie
Cacace, Rita
Engelborghs, Sebastiaan
Sieben, Anne
Banzhaf-Strathmann, Julia
Dillen, Lubina
Merlin, Celine
Cuijt, Ivy
Robberecht, Caroline
Schmid, Bettina
Santens, Patrick
Ivanoiu, Adrian
Vandenbulcke, Mathieu
Vandenberghe, Rik
Cras, Patrick
De Deyn, Peter P.
Martin, Jean-Jacques
Maudsley, Stuart
Haass, Christian
Cruts, Marc
Van Broeckhoven, Christine |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2015 |
| Reihe/Periodikum: |
Belgian Neurology BELNEU , Janssens , J , Philtjens , S , Kleinberger , G , Van Mossevelde , S , van der Zee , J , Cacace , R , Engelborghs , S , Sieben , A , Banzhaf-Strathmann , J , Dillen , L , Merlin , C , Cuijt , I , Robberecht , C , Schmid , B , Santens , P , Ivanoiu , A , Vandenbulcke , M , Vandenberghe , R , Cras , P , De Deyn , P P , Martin , J-J , Maudsley , S , Haass , C , Cruts , M & Van Broeckhoven , C 2015 , ' Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains ' , Acta Neuropathologica Communications , vol. 3 , 68 . https://doi.org/10.1186/s40478-015-0246-7 |
| Schlagwörter: |
Filamin C
/ Genetics
/ Frontotemporal lobar degeneration
/ Granulin GRN
/ Haploinsufficiency
/ Proteomics
/ AMYOTROPHIC-LATERAL-SCLEROSIS
/ LOBAR DEGENERATION
/ BINDING PROTEIN
/ HYPERTROPHIC CARDIOMYOPATHY
/ ALZHEIMERS-DISEASE
/ VASCULAR DEMENTIA
/ MUTATIONS
/ MYOPATHY
/ IDENTIFICATION
/ NEUROGRANIN |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-26526483 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://hdl.handle.net/11370/db571a94-44d8-47db-819e-e58ad432867f |
