These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 36158054)

  • 1. A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder.
    Oz Tuncer G; Randa NC; Aydin S; Aksoy A
    Mol Syndromol; 2022 Jul; 13(4):332-336. PubMed ID: 36158054
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.
    Van Bergen NJ; Walvekar AS; Patraskaki M; Sikora T; Linster CL; Christodoulou J
    J Inherit Metab Dis; 2022 Nov; 45(6):1028-1038. PubMed ID: 35866541
    [TBL] [Abstract][Full Text] [Related]  

  • 3. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
    Van Bergen NJ; Guo Y; Rankin J; Paczia N; Becker-Kettern J; Kremer LS; Pyle A; Conrotte JF; Ellaway C; Procopis P; Prelog K; Homfray T; Baptista J; Baple E; Wakeling M; Massey S; Kay DP; Shukla A; Girisha KM; Lewis LES; Santra S; Power R; Daubeney P; Montoya J; Ruiz-Pesini E; Kovacs-Nagy R; Pritsch M; Ahting U; Thorburn DR; Prokisch H; Taylor RW; Christodoulou J; Linster CL; Ellard S; Hakonarson H
    Brain; 2019 Jan; 142(1):50-58. PubMed ID: 30576410
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant.
    Cepress M; Grund E; Leng T; Patterson M; Saify M; Mohandesi NA; Homme J
    Am J Med Genet A; 2024 May; 194(5):e63519. PubMed ID: 38214124
    [TBL] [Abstract][Full Text] [Related]  

  • 5. NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.
    Majethia P; Mishra S; Rao LP; Rao R; Shukla A
    Eur J Med Genet; 2021 Sep; 64(9):104266. PubMed ID: 34161859
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
    Van Bergen NJ; Gunanayagam K; Bournazos AM; Walvekar AS; Warmoes MO; Semcesen LN; Lunke S; Bommireddipalli S; Sikora T; Patraskaki M; Jones DL; Garza D; Sebire D; Gooley S; McLean CA; Naidoo P; Rajasekaran M; Stroud DA; Linster CL; Wallis M; Cooper ST; Christodoulou J
    Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36834994
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cutaneous manifestations of NAXD deficiency - A case report.
    Malik MU; Nadir H; Jessop ZM; Cubitt JJ
    Ann Med Surg (Lond); 2020 Dec; 60():352-355. PubMed ID: 33224489
    [TBL] [Abstract][Full Text] [Related]  

  • 8. NAD(P)HX repair deficiency causes central metabolic perturbations in yeast and human cells.
    Becker-Kettern J; Paczia N; Conrotte JF; Zhu C; Fiehn O; Jung PP; Steinmetz LM; Linster CL
    FEBS J; 2018 Sep; 285(18):3376-3401. PubMed ID: 30098110
    [TBL] [Abstract][Full Text] [Related]  

  • 9. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
    Manor J; Calame D; Gijavanekar C; Fisher K; Hunter J; Mizerik E; Bacino C; Scaglia F; Elsea SH
    Mol Genet Metab; 2022 Jun; 136(2):101-110. PubMed ID: 35637064
    [TBL] [Abstract][Full Text] [Related]  

  • 10. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
    Kremer LS; Danhauser K; Herebian D; Petkovic Ramadža D; Piekutowska-Abramczuk D; Seibt A; Müller-Felber W; Haack TB; Płoski R; Lohmeier K; Schneider D; Klee D; Rokicki D; Mayatepek E; Strom TM; Meitinger T; Klopstock T; Pronicka E; Mayr JA; Baric I; Distelmaier F; Prokisch H
    Am J Hum Genet; 2016 Oct; 99(4):894-902. PubMed ID: 27616477
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Evidence that the metabolite repair enzyme NAD(P)HX epimerase has a moonlighting function.
    Niehaus TD; Elbadawi-Sidhu M; Huang L; Prunetti L; Gregory JF; de Crécy-Lagard V; Fiehn O; Hanson AD
    Biosci Rep; 2018 Jun; 38(3):. PubMed ID: 29654173
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
    Maalej M; Sfaihi L; Ammar M; Frikha F; Kharrat M; Alila-Fersi O; Mkaouar-Rebai E; Tlili A; Kammoun T; Fakhfakh F
    Neurogenetics; 2022 Oct; 23(4):257-270. PubMed ID: 35819538
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.
    Mohammadi P; Heidari M; Ashrafi MR; Mahdieh N; Garshasbi M
    Acta Neurol Belg; 2022 Oct; 122(5):1201-1210. PubMed ID: 34120322
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Plants utilize a highly conserved system for repair of NADH and NADPH hydrates.
    Niehaus TD; Richardson LG; Gidda SK; ElBadawi-Sidhu M; Meissen JK; Mullen RT; Fiehn O; Hanson AD
    Plant Physiol; 2014 May; 165(1):52-61. PubMed ID: 24599492
    [TBL] [Abstract][Full Text] [Related]  

  • 15. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
    Zhou J; Li J; Stenton SL; Ren X; Gong S; Fang F; Prokisch H
    Brain; 2020 Feb; 143(2):e8. PubMed ID: 31755961
    [No Abstract]   [Full Text] [Related]  

  • 16. Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.
    Almudhry M; Prasad C; Rupar CA; Tay KY; Prasad AN
    Front Neurol; 2024; 15():1204848. PubMed ID: 38419707
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations.
    Xu C; Zhou L; Jiang H; Song T; Liu Z; Duan X; Fang F
    Stem Cell Res; 2024 Apr; 76():103346. PubMed ID: 38387170
    [TBL] [Abstract][Full Text] [Related]  

  • 18. NAXE gene mutation-related progressive encephalopathy: A case report and literature review.
    Chiu LW; Lin SS; Chen CH; Lin CH; Lee NC; Hong SY; Chou IC; Lin CL; Yang PY
    Medicine (Baltimore); 2021 Oct; 100(42):e27548. PubMed ID: 34678889
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical and genetic features of early-onset progressive encephalopathy associated with NAXE gene mutations].
    Yu D; Zhao FM; Cai XT; Zhou H; Cheng Y
    Zhongguo Dang Dai Er Ke Za Zhi; 2018 Jul; 20(7):524-258. PubMed ID: 30022751
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Systems and strategies for plant protein expression.
    Zmuda AJ; Niehaus TD
    Methods Enzymol; 2023; 680():3-34. PubMed ID: 36710015
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.