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Träfflista för sökning "WFRF:(Kaye Jeffrey A.) ;srt2:(2015-2019)"

Search: WFRF:(Kaye Jeffrey A.) > (2015-2019)

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  • 2019
  • Journal article (peer-reviewed)
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2.
  • Wang, Li-San, et al. (author)
  • Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
  • 2015
  • In: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
  • Journal article (peer-reviewed)abstract
    • Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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3.
  • Nicolas, Aude, et al. (author)
  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
  • 2018
  • In: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
  • Journal article (peer-reviewed)abstract
    • To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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  • Result 1-3 of 3
Type of publication
journal article (3)
Type of content
peer-reviewed (3)
Author/Editor
Glass, Jonathan D. (2)
Blennow, Kaj, 1958 (1)
Kelly, Daniel (1)
Bengtsson-Palme, Joh ... (1)
Nilsson, Henrik (1)
Svendsen, Clive N. (1)
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Kelly, Ryan (1)
Li, Ying (1)
Moore, Matthew D. (1)
Zetterberg, Henrik, ... (1)
Andersen, Peter M. (1)
Al-Chalabi, Ammar (1)
Shatunov, Aleksey (1)
D'Alfonso, Sandra (1)
Abhyankar, Avinash (1)
Liu, Fang (1)
Zhang, Yao (1)
Jin, Yi (1)
Raza, Ali (1)
Rafiq, Muhammad (1)
Zhang, Kai (1)
Khatlani, T (1)
Kahan, Thomas (1)
Sörelius, Karl, 1981 ... (1)
Batra, Jyotsna (1)
Roobol, Monique J (1)
Backman, Lars (1)
Cooper-Knock, Johnat ... (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)
Weber, Markus (1)
Shaw, Christopher E. (1)
Shaw, Pamela J. (1)
Morrison, Karen E. (1)
Landers, John E. (1)
Van Eyk, Jennifer E. (1)
Yan, Hong (1)
Schmidt, Axel (1)
Lorkowski, Stefan (1)
Thrift, Amanda G. (1)
Zhang, Wei (1)
Hammerschmidt, Sven (1)
Patil, Chandrashekha ... (1)
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University
University of Gothenburg (2)
Umeå University (1)
Uppsala University (1)
Halmstad University (1)
Stockholm University (1)
Lund University (1)
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Chalmers University of Technology (1)
Karolinska Institutet (1)
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Language
English (3)
Research subject (UKÄ/SCB)
Medical and Health Sciences (3)
Natural sciences (1)

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