BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 33188300)

  • 1. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
    Ghosh SG; Lee S; Fabunan R; Chai G; Zaki MS; Abdel-Salam G; Sultan T; Ben-Omran T; Alvi JR; McEvoy-Venneri J; Stanley V; Patel A; Ross D; Ding J; Jain M; Pan D; Lübbert P; Kammerer B; Wiedemann N; Verhoeven-Duif NM; Jans JJ; Murphy D; Toosi MB; Ashrafzadeh F; Imannezhad S; Karimiani EG; Ibrahim K; Waters ER; Maroofian R; Gleeson JG
    Genet Med; 2021 Mar; 23(3):524-533. PubMed ID: 33188300
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 4-Hydroxyphenylpyruvate Dioxygenase-Like predicts the prognosis and the immunotherapy response of cancers: a pan-cancer analysis.
    Li H; Liu J; Wang S; Xu Y; Tang Q; Ying G
    Aging (Albany NY); 2024 Mar; 16(5):4327-4347. PubMed ID: 38451188
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
    Wiessner M; Maroofian R; Ni MY; Pedroni A; Müller JS; Stucka R; Beetz C; Efthymiou S; Santorelli FM; Alfares AA; Zhu C; Uhrova Meszarosova A; Alehabib E; Bakhtiari S; Janecke AR; Otero MG; Chen JYH; Peterson JT; Strom TM; De Jonghe P; Deconinck T; De Ridder W; De Winter J; Pasquariello R; Ricca I; Alfadhel M; van de Warrenburg BP; Portier R; Bergmann C; Ghasemi Firouzabadi S; Jin SC; Bilguvar K; Hamed S; Abdelhameed M; Haridy NA; Maqbool S; Rahman F; Anwar N; Carmichael J; Pagnamenta A; Wood NW; Tran Mau-Them F; Haack T; ; Di Rocco M; Ceccherini I; Iacomino M; Zara F; Salpietro V; Scala M; Rusmini M; Xu Y; Wang Y; Suzuki Y; Koh K; Nan H; Ishiura H; Tsuji S; Lambert L; Schmitt E; Lacaze E; Küpper H; Dredge D; Skraban C; Goldstein A; Willis MJH; Grand K; Graham JM; Lewis RA; Millan F; Duman Ö; Dündar N; Uyanik G; Schöls L; Nürnberg P; Nürnberg G; Catala Bordes A; Seeman P; Kuchar M; Darvish H; Rebelo A; Bouçanova F; Medard JJ; Chrast R; Auer-Grumbach M; Alkuraya FS; Shamseldin H; Al Tala S; Rezazadeh Varaghchi J; Najafi M; Deschner S; Gläser D; Hüttel W; Kruer MC; Kamsteeg EJ; Takiyama Y; Züchner S; Baets J; Synofzik M; Schüle R; Horvath R; Houlden H; Bartesaghi L; Lee HJ; Ampatzis K; Pierson TM; Senderek J
    Brain; 2021 Jun; 144(5):1422-1434. PubMed ID: 33970200
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
    Husain RA; Grimmel M; Wagner M; Hennings JC; Marx C; Feichtinger RG; Saadi A; Rostásy K; Radelfahr F; Bevot A; Döbler-Neumann M; Hartmann H; Colleaux L; Cordts I; Kobeleva X; Darvish H; Bakhtiari S; Kruer MC; Besse A; Ng AC; Chiang D; Bolduc F; Tafakhori A; Mane S; Ghasemi Firouzabadi S; Huebner AK; Buchert R; Beck-Woedl S; Müller AJ; Laugwitz L; Nägele T; Wang ZQ; Strom TM; Sturm M; Meitinger T; Klockgether T; Riess O; Klopstock T; Brandl U; Hübner CA; Deschauer M; Mayr JA; Bonnen PE; Krägeloh-Mann I; Wortmann SB; Haack TB
    Am J Hum Genet; 2020 Aug; 107(2):364-373. PubMed ID: 32707086
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Leigh syndrome-like MRI changes in a patient with biallelic
    Numata-Uematsu Y; Uematsu M; Yamamoto T; Saitsu H; Katata Y; Oikawa Y; Saijyo N; Inui T; Murayama K; Ohtake A; Osaka H; Takanashi JI; Kure S; Inoue K
    Mol Genet Metab Rep; 2021 Dec; 29():100800. PubMed ID: 34522618
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 4-Hydroxyphenylpyruvate Dioxygenase-Like Protein Promotes Pancreatic Cancer Cell Progression and Is Associated With Glutamine-Mediated Redox Balance.
    Ye X; Wei X; Liao J; Chen P; Li X; Chen Y; Yang Y; Zhao Q; Sun H; Pan L; Chen G; He X; Lyu J; Fang H
    Front Oncol; 2020; 10():617190. PubMed ID: 33537239
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in
    Morgan NV; Yngvadottir B; O'Driscoll M; Clark GR; Walsh D; Martin E; Tee L; Reid E; Titheradge HL; Maher ER
    Brain Commun; 2021; 3(1):fcab002. PubMed ID: 33634263
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Regional assignment of the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) to 12q24-->qter by fluorescence in situ hybridization.
    Stenman G; Röijer E; Rüetschi U; Dellsén A; Rymo L; Lindstedt S
    Cytogenet Cell Genet; 1995; 71(4):374-6. PubMed ID: 8521727
    [TBL] [Abstract][Full Text] [Related]  

  • 9. HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.
    Sun Y; Wei X; Fang F; Shen Y; Wei H; Li J; Ye X; Zhan Y; Ye X; Liu X; Yang W; Li Y; Geng X; Huang X; Ruan Y; Qin Z; Yi S; Lyu J; Fang H; Yu Y
    J Genet Genomics; 2021 Aug; 48(8):727-736. PubMed ID: 34334354
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.
    Endo F; Kubo S; Awata H; Kiwaki K; Katoh H; Kanegae Y; Saito I; Miyazaki J; Yamamoto T; Jakobs C; Hattori S; Matsuda I
    J Biol Chem; 1997 Sep; 272(39):24426-32. PubMed ID: 9305902
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Subcellular localization and purification of a p-hydroxyphenylpyruvate dioxygenase from cultured carrot cells and characterization of the corresponding cDNA.
    Garcia I; Rodgers M; Lenne C; Rolland A; Sailland A; Matringe M
    Biochem J; 1997 Aug; 325 ( Pt 3)(Pt 3):761-9. PubMed ID: 9271098
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Engineering p-hydroxyphenylpyruvate dioxygenase to a p-hydroxymandelate synthase and evidence for the proposed benzene oxide intermediate in homogentisate formation.
    Gunsior M; Ravel J; Challis GL; Townsend CA
    Biochemistry; 2004 Jan; 43(3):663-74. PubMed ID: 14730970
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tissue distribution, intracellular localization and proteolytic processing of rat 4-hydroxyphenylpyruvate dioxygenase.
    Neve S; Aarenstrup L; Tornehave D; Rahbek-Nielsen H; Corydon TJ; Roepstorff P; Kristiansen K
    Cell Biol Int; 2003; 27(8):611-24. PubMed ID: 12867153
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
    Rüetschi U; Cerone R; Pérez-Cerda C; Schiaffino MC; Standing S; Ugarte M; Holme E
    Hum Genet; 2000 Jun; 106(6):654-62. PubMed ID: 10942115
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Human 4-hydroxyphenylpyruvate dioxygenase. Primary structure and chromosomal localization of the gene.
    Rüetschi U; Dellsén A; Sahlin P; Stenman G; Rymo L; Lindstedt S
    Eur J Biochem; 1993 May; 213(3):1081-9. PubMed ID: 8504803
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway.
    Banh RS; Kim ES; Spillier Q; Biancur DE; Yamamoto K; Sohn ASW; Shi G; Jones DR; Kimmelman AC; Pacold ME
    Nature; 2021 Sep; 597(7876):420-425. PubMed ID: 34471290
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD).
    Rüetschi U; Rymo L; Lindstedt S
    Genomics; 1997 Sep; 44(3):292-9. PubMed ID: 9325050
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cloning, expression, and purification of mammalian 4-hydroxyphenylpyruvate dioxygenase/alpha-ketoisocaproate dioxygenase.
    Crouch NP; Lee MH; Iturriagagoitia-Bueno T; MacKinnon CH
    Methods Enzymol; 2000; 324():342-55. PubMed ID: 10989443
    [No Abstract]   [Full Text] [Related]  

  • 19. Structural and functional characterization of 4-hydroxyphenylpyruvate dioxygenase from the thermoacidophilic archaeon Picrophilus torridus.
    Frick E; Spatzal T; Gerhardt S; Krämer A; Einsle O; Hüttel W
    Extremophiles; 2014 Jul; 18(4):641-51. PubMed ID: 24794033
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD).
    Awata H; Endo F; Matsuda I
    Genomics; 1994 Oct; 23(3):534-9. PubMed ID: 7851880
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.