SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Martens Helge) "

Sökning: WFRF:(Martens Helge)

  • Resultat 1-2 av 2
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Gad, Helge, et al. (författare)
  • MTH1 inhibition eradicates cancer by preventing sanitation of the dNTP pool
  • 2014
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 508:7495, s. 215-221
  • Tidskriftsartikel (refereegranskat)abstract
    • Cancers have dysfunctional redox regulation resulting in reactive oxygen species production, damaging both DNA and free dNTPs. The MTH1 protein sanitizes oxidized dNTP pools to prevent incorporation of damaged bases during DNA replication. Although MTH1 is non-essential in normal cells, we show that cancer cells require MTH1 activity to avoid incorporation of oxidized dNTPs, resulting in DNA damage and cell death. We validate MTH1 as an anticancer target in vivo and describe small molecules TH287 and TH588 as first-in-class nudix hydrolase family inhibitors that potently and selectively engage and inhibit the MTH1 protein in cells. Protein co-crystal structures demonstrate that the inhibitors bindin the active site of MTH1. The inhibitors cause incorporation of oxidized dNTPs in cancer cells, leading to DNA damage, cytotoxicity and therapeutic responses in patient-derived mouse xenografts. This study exemplifies the non-oncogene addiction concept for anticancer treatment and validates MTH1 as being cancer phenotypic lethal.
  •  
2.
  • Osmanovic, Alma, et al. (författare)
  • Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
  • 2022
  • Ingår i: Genes. - : MDPI. - 2073-4425. ; 13:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive upper and lower motor neuron (LMN) loss. As ALS and other neurodegenerative diseases share genetic risk factors, we performed whole-exome sequencing in ALS patients focusing our analysis on genes implicated in neurodegeneration. Thus, variants in the DHTKD1 gene encoding dehydrogenase E1 and transketolase domain containing 1 previously linked to 2-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth (CMT) disease type 2, and spinal muscular atrophy (SMA) were identified. In two independent European ALS cohorts (n = 643 cases), 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants predicted to be deleterious. Four DHTKD1 variants were previously described pathogenic variants, seven were recurrent, and eight were located in the E1_dh dehydrogenase domain. Nonsense variants located in the E1_dh domain were significantly more prevalent in ALS patients versus controls. The phenotype of ALS patients carrying DHTKD1 variants partially overlapped with CMT and SMA by presence of sensory impairment and a higher frequency of LMN-predominant cases. Our results argue towards rare heterozygous DHTKD1 variants as potential contributors to ALS phenotype and, possibly, pathogenesis.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-2 av 2
Typ av publikation
tidskriftsartikel (2)
Typ av innehåll
refereegranskat (2)
Författare/redaktör
Johansson, Lars (1)
Henriksson, Martin (1)
Johansson, Fredrik (1)
Helleday, Thomas (1)
Andersen, Peter M., ... (1)
Loseva, Olga (1)
visa fler...
Artursson, Per (1)
Hammarström, Lars G. ... (1)
Svensson, Richard (1)
Jenmalm Jensen, Anni ... (1)
Lundbäck, Thomas (1)
Petri, Susanne (1)
Lundin, Cecilia (1)
Schultz, Niklas (1)
Gustafsson, Robert (1)
Axelsson, Hanna (1)
Altun, Mikael (1)
Jeppsson, Fredrik (1)
Djureinovic, Tatjana (1)
Ludolph, Albert C. (1)
Stenmark, Pål (1)
Nilsson, Jonas A, 19 ... (1)
Weishaupt, Jochen H. (1)
Wallner, Olov A. (1)
Gad, Helge (1)
Martens, Ulf (1)
Häggblad, Maria (1)
Lundgren, Bo (1)
Saleh, Aljona (1)
Einarsdottir, Bergli ... (1)
Gaugaz, Fabienne Z. (1)
Baranczewski, Pawel (1)
Berntsson, Ronnie P. ... (1)
Svensson, Linda M. (1)
Pham, Therese (1)
Scobie, Martin (1)
Höglund, Andreas (1)
Göktürk, Camilla (1)
Wiita, Elisee (1)
Vallin, Karl S. A. (1)
Jemth, Ann-Sofie (1)
Sanjiv, Kumar (1)
Desroses, Matthieu (1)
Kalderen, Christina (1)
Koolmeister, Tobias (1)
Homan, Evert J. (1)
Carreras-Puigvert, J ... (1)
Müller, Kathrin (1)
Bräutigam, Lars (1)
Warpman Berglund, Ul ... (1)
visa färre...
Lärosäte
Göteborgs universitet (1)
Umeå universitet (1)
Uppsala universitet (1)
Stockholms universitet (1)
Linköpings universitet (1)
Karolinska Institutet (1)
Språk
Engelska (2)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (2)
Naturvetenskap (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy