Research Topics
Genomes and Genes | Samir Kumar-SinghSummaryAffiliation: University of Antwerp Country: Belgium Publications
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Publications
Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentricSamir Kumar-Singh
Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium
Am J Pathol 161:507-20. 2002....
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40Samir Kumar-Singh
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology, University of Antwerp, Antwerpen, Belgium
Hum Mutat 27:686-95. 2006..Also, the in vitro method we describe here is a valid tool for assaying the pathogenic potential of clinical PSEN mutations in a molecular diagnostic setting...- Dense-core plaques in Tg2576 and PSAPP mouse models of Alzheimer's disease are centered on vessel wallsSamir Kumar-Singh
Department of Molecular Genetics VIB8, Neurodegenerative Brain Diseases Research Group, Molecular Neuropathology Project, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
Am J Pathol 167:527-43. 2005.... 
Cerebral amyloid angiopathy: pathogenetic mechanisms and link to dense amyloid plaquesS Kumar-Singh
Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
Genes Brain Behav 7:67-82. 2008....- Progranulin and TDP-43: mechanistic links and future directionsSamir Kumar-Singh
Laboratory of Molecular and Cellular Neuropathology, University of Antwerp, Universiteitsplein 1, 2610, Antwerpen, Belgium
J Mol Neurosci 45:561-73. 2011..Continued multitiered efforts on genetic, cell biological, and animal modeling approaches would prove crucial in finding a cure for GRN-related diseases... - Frontotemporal lobar degeneration: current concepts in the light of recent advancesSamir Kumar-Singh
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Laboratory of Neurogenetics, VIB, Institute Born Bunge and University of Antwerp, BE 2610 Antwerpen, Belgium
Brain Pathol 17:104-14. 2007..These findings are pivotal for dissecting the pathways by which different etiologies lead to the varied clinicopathological presentations of FTLD... - Progranulin expression correlates with dense-core amyloid plaque burden in Alzheimer disease mouse modelsSandra Pereson
Department of Molecular Genetics, VIB, Antwerpen, Belgium
J Pathol 219:173-81. 2009..Because loss of GRN has recently been shown to cause frontotemporal dementia and serves as a risk factor for AD, the strong GRN reactivity around dense-core plaques is consistent with an important role of this factor in AD pathogenesis... - Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder familyNathalie Brouwers
VIB Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp CDE, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
Arch Neurol 64:1436-46. 2007..Progranulin gene (PGRN) haploinsufficiency was recently associated with ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU-17)... - Reduced brain volumes in mice expressing APP-Austrian mutation but not in mice expressing APP-Swedish-Austrian mutationsBianca Van Broeck
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
Neurosci Lett 447:143-7. 2008..These data also provide a first in vivo indication of altered processing of APP-Swedish at sub-endogenous levels, an effect not observed in mouse models expressing the APP-Swedish mutation in high amounts... - Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout miceHans Wils
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
J Pathol 228:67-76. 2012..Our data suggest that progranulin deficiency in mice leads to reduced survival in adulthood and increased cellular ageing accompanied by hyperphosphorylation of TDP-43, and recapitulates key aspects of FTLD-TDP neuropathology... - Intraneuronal amyloid beta and reduced brain volume in a novel APP T714I mouse model for Alzheimer's diseaseBianca Van Broeck
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
Neurobiol Aging 29:241-52. 2008..These data support earlier observations of A beta accumulation in the endosomal-lysosomal pathway and the hypothesis that intraneuronal accumulation of A beta could be an important factor in the AD pathogenesis... - Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration familyDaniel Pirici
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8, Institute Born-Bunge, University of Antwerp, Belgium
J Neuropathol Exp Neurol 65:289-301. 2006..Whereas the precise nature of the protein remains elusive, characterization of such familial FTLD-U patients would be helpful in identifying a common denominator in the pathogenesis of familial and the more prevalent sporadic FTLD-U... - Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Marc Cruts
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
Nature 442:920-4. 2006..Furthermore, in a Belgian series of familial FTD patients, PGRN mutations were 3.5 times more frequent than mutations in MAPT, underscoring a principal involvement of PGRN in FTD pathogenesis... - Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic updateJulie van der Zee
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Laboratory of Neurogenetics, Institute Born Bunge, and University of Antwerp, Antwerp, Belgium
Neurodegener Dis 4:227-35. 2007..This review focuses on the molecular genetic processes underlying FTLD-U pathology... - Increased caspase activation and decreased TDP-43 solubility in progranulin knockout cortical culturesGernot Kleinberger
Department of Molecular Genetics, VIB, Universiteitsplein 1, Antwerpen, Belgium
J Neurochem 115:735-47. 2010..This leads to increased aggregation and accumulation of full-length TDP-43 along with its C-terminal derivatives by both caspase-dependent and independent mechanisms... - Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosisIlse Gijselinck
University of Antwerp, B 2610 Antwerp, Belgium
Arch Neurol 67:606-16. 2010..Frontotemporal lobar degeneration (FTLD) is a neurodegenerative brain disorder that can be accompanied by signs of amyotrophic lateral sclerosis (ALS)... - Current insights into molecular mechanisms of Alzheimer disease and their implications for therapeutic approachesBianca Van Broeck
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Universiteitsplein I, BE 2610 Antwerp, Belgium
Neurodegener Dis 4:349-65. 2007..Secondly, considering these mechanistic insights, we will discuss some therapeutic strategies which are currently in clinical or preclinical trials for AD... - A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaquesBart Dermaut
Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology VIB8, University of Antwerp, Antwerpen, Belgium
Ann Neurol 55:617-26. 2004..Our results suggest PS1 as a candidate gene for Pick-type tauopathy without MAPT mutations... - In vitro studies of Flemish, Dutch, and wild-type beta-amyloid provide evidence for two-staged neurotoxicitySamir Kumar-Singh
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, University of Antwerp, B-2610 Antwerp, Belgium
Neurobiol Dis 11:330-40. 2002.... - TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degenerationHans Wils
Department of Molecular Genetics, VIB, B 2610 Antwerpen, Belgium
Proc Natl Acad Sci U S A 107:3858-63. 2010..These findings suggest that approximately 25-kDa TDP-43 CTFs are noxious to neurons by a gain of aberrant nuclear function... - Tau is central in the genetic Alzheimer-frontotemporal dementia spectrumBart Dermaut
Department of Molecular Genetics (VIB 8, Flanders Interuniversity Institute for Biotechnology, Neurodegenerative Brain Diseases Group, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610 Antwerpen, Belgium
Trends Genet 21:664-72. 2005..Together, these studies suggest that AD and FTD are linked in a genetic spectrum of presenile degenerative brain disorders in which tau appears to be the central player... - Genetics and pathology of alpha-secretase site AbetaPP mutations in the understanding of Alzheimer's diseaseChristine Van Broeckhoven
Department of Molecular Genetics, Neurodegenerative Brain Diseases Research Group, Flanders Interuniversity Institute for Biotechnology, Institute Born Bunge and University of Antwerp, Antwerpen, Belgium
J Alzheimers Dis 9:389-98. 2006..In addition, this review will also point directions that warrant additional studies... - A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorderVeerle Bogaerts
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Institute Born Bunge, Antwerpen, Belgium
Brain 130:2277-91. 2007..Once identified this will be the first novel causal gene for DLB and can be expected to open new avenues for biological studies of the disease process... - Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Marc Cruts
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
Curr Alzheimer Res 3:485-91. 2006..These findings open promising novel targets for therapeutic intervention against neurodegeneration... - Molecular pathogenesis of frontotemporal lobar degeneration: basic science seminar in neurologyKristel Sleegers
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Institute for Biotechnology, Flanders, and Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
Arch Neurol 65:700-4. 2008 - Antibody elution method for multiple immunohistochemistry on primary antibodies raised in the same species and of the same subtypeDaniel Pirici
Department of Histology, University of Medicine and Pharmacy Craiova, Petru Rares Street 2, 200349 Craiova Dolj, Romania
J Histochem Cytochem 57:567-75. 2009..This manuscript contains online supplemental material at http://www.jhc.org. Please visit this article online to view these materials... - Fractal analysis of amyloid plaques in Alzheimer's disease patients and mouse modelsDaniel Pirici
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
Neurobiol Aging 32:1579-87. 2011..001). Our data suggest that plaque FD could be a valuable tool for objective, computer-oriented AD diagnosis as well as for genotype-phenotype correlations of AD... - A novel drug target in Alzheimer's diseaseMarjolijn Bornebroek
Department of Epidemiology and Biostatistics, Erasmus Medical Centre, 3000 DR Rotterdam, Netherlands
Lancet 364:1738-9. 2004 - Hereditary cerebral hemorrhage with amyloidosis Dutch type (AbetaPP 693): decreased plasma amyloid-beta 42 concentrationMarjolijn Bornebroek
Department of Neurology K5Q, Leiden University Medical Center, P O Box 9600, 2300 RC, Leiden, The Netherlands
Neurobiol Dis 14:619-23. 2003..Therefore it is suggested that the Dutch AbetaPP693 mutation located within the Abeta coding region of the AbetaPP gene has a different effect not only on clinical and pathological expression but also on Abeta processing...