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1.
001-es BibID:
BIBFORM051632
035-os BibID:
PMID: 22692064
Első szerző:
Smith, Bradley
Cím:
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder / Bradley N. Smith, Stephen Newhouse, Aleksey Shatunov, Caroline Vance, Simon Topp, Lauren Johnson, Jack Miller, Younbok Lee, Claire Troakes, Kirsten M. Scott, Ashley Jones, Ian Gray, Jamie Wright, Tibor Hortobágyi, Safa Al-Sarraj, Boris Rogelj, John Powell, Michelle Lupton, Simon Lovestone, Peter C. Sapp, Markus Weber, Peter J. Nestor, Helenius J. Schelhaas, Anneloor ALM ten Asbroek, Vincenzo Silani, Cinzia Gellera, Franco Taroni, Nicola Ticozzi, Leonard Van den Berg, Jan Veldink, Phillip Van Damme, Wim Robberecht, Pamela J. Shaw, Janine Kirby, Hardev Pall, Karen E. Morrison, Alex Morris, Jacqueline de Belleroche, J. M. B. Vianney de Jong, Frank Baas, Peter M. Andersen, John Landers, Robert H. Brown Jr., Michael E. Weale, Ammar Al-Chalabi, Christopher E. Shaw
Dátum:
2013
ISSN:
1018-4813
Megjegyzések:
A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we describe the frequency, origin and stability of this mutation in ALS+/-FTD from five European cohorts (total n=1347). Single-nucleotide polymorphisms defining the risk haplotype in linked kindreds were genotyped in cases (n=434) and controls (n=856). Haplotypes were analysed using PLINK and aged using DMLE+. In a London clinic cohort, the HREM was the most common mutation in familial ALS+/-FTD: C9ORF72 29/112 (26%), SOD1 27/112 (24%), TARDBP 1/112 (1%) and FUS 4/112 (4%) and detected in 13/216 (6%) of unselected sporadic ALS cases but was rare in controls (3/856, 0.3%). HREM prevalence was high for familial ALS+/-FTD throughout Europe: Belgium 19/22 (86%), Sweden 30/41 (73%), the Netherlands 10/27 (37%) and Italy 4/20 (20%). The HREM did not affect the age at onset or survival of ALS patients. Haplotype analysis identified a common founder in all 137 HREM carriers that arose around 6300 years ago. The haplotype from which the HREM arose is intrinsically unstable with an increased number of repeats (average 8, compared with 2 for controls, P<10(-8)). We conclude that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe.
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:
European Journal of Human Genetics. - 21 : 1 (2013), p. 102-108. -
További szerzők:
Newhouse, Stephen
Shatunov, Aleksey
Vance, Caroline
Topp, Simon
Johnson, Lauren
Miller, Jack
Lee, Younbok
Troakes, Claire
Scott, Kirsten M.
Jones, Ashley
Gray, Ian
Wright, Jamie
Hortobágyi Tibor (1965-) (patológus)
Al-Sarraj, Safa
Rogelj, Boris
Powell, John
Lupton, Michelle
Lovestone, Simon
Sapp, Peter C.
Weber, Markus
Nestor, Peter J.
Schelhaas, Helenius J.
Asbroek, Anneloor ALM ten
Silani, Vincenzo
Gellera, Cinzia
Taroni, Franco
Ticozzi, Nicola
Van den Berg, Leonard H.
Veldink, Jan H.
Van Damme, Phillip
Robberecht, Wim
Shaw, Pamela J.
Kirby, Janine
Pall, Hardev
Morrison, Karen E.
Morris, Alex
de Belleroche, Jacqueline
Vianney de Jong, J. M. B.
Baas, Frank
Andersen, Peter M.
Landers, John
Brown, Robert H. (Jr.)
Weale, Michael E.
Al-Chalabi, Ammar
Shaw, Christopher E.
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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Saját polcon:
2.
001-es BibID:
BIBFORM076126
035-os BibID:
(WoS)000446548400016 (Scopus)85054395402
Első szerző:
Solomon, Daniel A.
Cím:
A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-[alfa] mediates C9orf72-related neurodegeneration / Solomon Daniel A., Stepto Alan., Au Wing Hei, Adachi Yoshitsugu, Diaper Danielle C., Hall Rachel, Rekhi Anjeet, Boudi Adel, Tziortzouda Paraskevi, Lee Youn-Bok, Smith Bradley, Bridi Jessika C., Spinelli Greta, Dearlove Jonah, Humphrey Dickon M., Gallo Jean-Marc, Troakes Claire, Fanto Manolis, Soller Matthias, Rogelj Boris, Parsons Richard B., Shaw Christopher E., Hortobágyi Tibor, Hirth Frank
Dátum:
2018
ISSN:
0006-8950
Megjegyzések:
Accumulation and aggregation of TDP-43 is a major pathological hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. TDP-43 inclusions also characterize patients with GGGGCC (G4C2) hexanucleotide repeat expansion in C9orf72 that causes the most common genetic form of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Functional studies in cell and animal models have identified pathogenic mechanisms including repeat-induced RNA toxicity and accumulation of G4C2-derived dipeptide-repeat proteins. The role of TDP-43 dysfunction in C9ALS/FTD, however, remains elusive. We found G4C2-derived dipeptide-repeat protein but not G4C2-RNA accumulation caused TDP-43 proteinopathy that triggered onset and progression of disease in Drosophila models of C9ALS/FTD. Timing and extent of TDP-43 dysfunction was dependent on levels and identity of dipeptide-repeat proteins produced, with poly-GR causing early and poly-GA/poly-GP causing late onset of disease. Accumulating cytosolic, but not insoluble aggregated TDP-43 caused karyopherin-?2/4 (KPNA2/4) pathology, increased levels of dipeptide-repeat proteins and enhanced G4C2-related toxicity. Comparable KPNA4 pathology was observed in both sporadic frontotemporal dementia and C9ALS/FTD patient brains characterized by its nuclear depletion and cytosolic accumulation, irrespective of TDP-43 or dipeptide-repeat protein aggregates. These findings identify a vicious feedback cycle for dipeptide-repeat protein-mediated TDP-43 and subsequent KPNA pathology, which becomes self-sufficient of the initiating trigger and causes C9-related neurodegeneration.
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:
Brain. - 141 : 10 (2018), p. 2908-2924. -
További szerzők:
Stepto, Alan
Au, Wing Hei
Adachi, Yoshitsugu
Diaper, Danielle C.
Hall, Rachel
Rekhi, Anjeet
Boudi, Adel
Tziortzouda, Paraskevi
Lee, Younbok
Smith, Bradley
Bridi, Jessika C.
Spinelli, Greta
Dearlove, Jonah
Humphrey, Dickon M.
Gallo, Jean-Marc
Troakes, Claire
Fanto, Manolis
Soller, Matthias
Rogelj, Boris
Parsons, Richard B.
Shaw, Christopher E.
Hortobágyi Tibor (1965-) (patológus)
Hirth, Frank
Internet cím:
Szerző által megadott URL
DOI
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