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Träfflista för sökning "WFRF:(Van Damme An) srt2:(2015-2019)"

Search: WFRF:(Van Damme An) > (2015-2019)

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2.
  • van Rheenen, Wouter, et al. (author)
  • Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
  • 2016
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1043-1048
  • Journal article (peer-reviewed)abstract
    • To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
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3.
  • Annelies, Nonneman, et al. (author)
  • Astrocyte-derived Jagged-1 mitigates deleterious Notch signaling in amyotrophic lateral sclerosis
  • 2018
  • In: Neurobiology of Disease. - : Academic Press. - 0969-9961 .- 1095-953X. ; 119, s. 26-40
  • Journal article (peer-reviewed)abstract
    • Amyotrophic lateral sclerosis (ALS) is a late-onset devastating degenerative disease mainly affecting motor neurons. Motor neuron degeneration is accompanied and aggravated by oligodendroglial pathology and the presence of reactive astrocytes and microglia. We studied the role of the Notch signaling pathway in ALS, as it is implicated in several processes that may contribute to this disease, including axonal retraction, microgliosis, astrocytosis, oligodendrocyte precursor cell proliferation and differentiation, and cell death. We observed abnormal activation of the Notch signaling pathway in the spinal cord of SOD1(G93A) mice, a well-established model for ALS, as well as in the spinal cord of patients with sporadic ALS (sALS). This increased activation was particularly evident in reactive GFAP-positive astrocytes. In addition, one of the main Notch ligands, Jagged-1, was ectopically expressed in reactive astrocytes in spinal cord from ALS mice and patients, but absent in resting astrocytes. Astrocyte-specific inactivation of Jagged-1 in presymptomatic SOD1(G93A) mice further exacerbated the activation of the Notch signaling pathway and aggravated the course of the disease in these animals without affecting disease onset. These data suggest that aberrant Notch signaling activation contributes to the pathogenesis of ALS, both in sALS patients and SOD1(G93A) mice, and that it is mitigated in part by the upregulation of astrocytic Jagged-1.
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  • Result 1-4 of 4
Type of publication
journal article (4)
Type of content
peer-reviewed (4)
Author/Editor
Zhang, Yan (1)
Korhonen, Laura (1)
Lindholm, Dan (1)
Vertessy, Beata G. (1)
Wang, Mei (1)
Padovani, Alessandro (1)
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Wang, Xin (1)
Liu, Yang (1)
Andersen, Peter M. (1)
Al-Chalabi, Ammar (1)
Shatunov, Aleksey (1)
Jones, Ashley R. (1)
Kumar, Rakesh (1)
Wang, Dong (1)
D'Alfonso, Sandra (1)
Li, Ke (1)
Liu, Ke (1)
Zhang, Yang (1)
Nàgy, Péter (1)
Kominami, Eiki (1)
van der Goot, F. Gis ... (1)
Bonaldo, Paolo (1)
Thum, Thomas (1)
Adams, Christopher M (1)
Minucci, Saverio (1)
Vellenga, Edo (1)
Araujo, Rafael (1)
Fogh, Isabella (1)
van Damme, Philip (1)
Corcia, Philippe (1)
Hardiman, Orla (1)
Silani, Vincenzo (1)
Ticozzi, Nicola (1)
Veldink, Jan H. (1)
van den Berg, Leonar ... (1)
de Carvalho, Mamede (1)
Pinto, Susana (1)
Weber, Markus (1)
Shaw, Christopher E. (1)
Shaw, Pamela J. (1)
Morrison, Karen E. (1)
Landers, John E. (1)
Glass, Jonathan D. (1)
Vourc’h, Patrick (1)
Breen, Gerome (1)
Swärd, Karl (1)
Nilsson, Per (1)
De Milito, Angelo (1)
Zhang, Jian (1)
Shukla, Deepak (1)
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University
Umeå University (2)
Karolinska Institutet (2)
Royal Institute of Technology (1)
Stockholm University (1)
Linköping University (1)
Lund University (1)
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Swedish Museum of Natural History (1)
Swedish University of Agricultural Sciences (1)
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Language
English (4)
Research subject (UKÄ/SCB)
Medical and Health Sciences (3)
Natural sciences (1)

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