BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 28673863)

  • 1. MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report.
    Pyal A; Paramasivam A; Meena AK; Bhavana VB; Thangaraj K
    Mitochondrion; 2017 Nov; 37():41-45. PubMed ID: 28673863
    [TBL] [Abstract][Full Text] [Related]  

  • 2. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
    El-Hattab AW; Li FY; Schmitt E; Zhang S; Craigen WJ; Wong LJ
    Mol Genet Metab; 2010 Mar; 99(3):300-8. PubMed ID: 20074988
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
    Uusimaa J; Evans J; Smith C; Butterworth A; Craig K; Ashley N; Liao C; Carver J; Diot A; Macleod L; Hargreaves I; Al-Hussaini A; Faqeih E; Asery A; Al Balwi M; Eyaid W; Al-Sunaid A; Kelly D; van Mourik I; Ball S; Jarvis J; Mulay A; Hadzic N; Samyn M; Baker A; Rahman S; Stewart H; Morris AA; Seller A; Fratter C; Taylor RW; Poulton J
    Eur J Hum Genet; 2014 Feb; 22(2):184-91. PubMed ID: 23714749
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
    El-Hattab AW; Wang J; Dai H; Almannai M; Staufner C; Alfadhel M; Gambello MJ; Prasun P; Raza S; Lyons HJ; Afqi M; Saleh MAM; Faqeih EA; Alzaidan HI; Alshenqiti A; Flore LA; Hertecant J; Sacharow S; Barbouth DS; Murayama K; Shah AA; Lin HC; Wong LC
    Hum Mutat; 2018 Apr; 39(4):461-470. PubMed ID: 29282788
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
    Spinazzola A; Santer R; Akman OH; Tsiakas K; Schaefer H; Ding X; Karadimas CL; Shanske S; Ganesh J; Di Mauro S; Zeviani M
    Arch Neurol; 2008 Aug; 65(8):1108-13. PubMed ID: 18695062
    [TBL] [Abstract][Full Text] [Related]  

  • 6.
    Hong KT; Lim BC; Moon JS; Ko JS
    Korean J Gastroenterol; 2021 May; 77(5):248-252. PubMed ID: 34035203
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
    Piekutowska-Abramczuk D; Pronicki M; Strawa K; Karkucińska-Więckowska A; Szymańska-Dębińska T; Fidziańska A; Więckowski MR; Jurkiewicz D; Ciara E; Jankowska I; Sykut-Cegielska J; Krajewska-Walasek M; Płoski R; Pronicka E
    Clin Genet; 2014 Jun; 85(6):573-7. PubMed ID: 23829229
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The zebrafish orthologue of the human hepatocerebral disease gene
    Martorano L; Peron M; Laquatra C; Lidron E; Facchinello N; Meneghetti G; Tiso N; Rasola A; Ghezzi D; Argenton F
    Dis Model Mech; 2019 Mar; 12(3):. PubMed ID: 30833296
    [TBL] [Abstract][Full Text] [Related]  

  • 9. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
    Blakely EL; Butterworth A; Hadden RD; Bodi I; He L; McFarland R; Taylor RW
    Neuromuscul Disord; 2012 Jul; 22(7):587-91. PubMed ID: 22508010
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
    Baumann M; Schreiber H; Schlotter-Weigel B; Löscher WN; Stucka R; Karall D; Strom TM; Bauer P; Krabichler B; Fauth C; Glaeser D; Senderek J
    Clin Genet; 2019 Jan; 95(1):182-186. PubMed ID: 30298599
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
    AlSaman A; Tomoum H; Invernizzi F; Zeviani M
    Saudi J Gastroenterol; 2012; 18(4):285-9. PubMed ID: 22824774
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
    Mahjoub G; Habibzadeh P; Dastsooz H; Mirzaei M; Kavosi A; Jamali L; Javanmardi H; Katibeh P; Faghihi MA; Dastgheib SA
    BMC Med Genet; 2019 Oct; 20(1):167. PubMed ID: 31664948
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
    Navarro-Sastre A; Martín-Hernández E; Campos Y; Quintana E; Medina E; de Las Heras RS; Lluch M; Muñoz A; del Hoyo P; Martín R; Gort L; Briones P; Ribes A
    Mol Genet Metab; 2008 Jun; 94(2):234-9. PubMed ID: 18329934
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The mitochondrial inner membrane protein MPV17 prevents uracil accumulation in mitochondrial DNA.
    Alonzo JR; Venkataraman C; Field MS; Stover PJ
    J Biol Chem; 2018 Dec; 293(52):20285-20294. PubMed ID: 30385507
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis.
    Pronicki M; Piekutowska-Abramczuk D; Rokicki D; Iwanicka-Pronicka K; Grajkowska W
    Pol J Pathol; 2018; 69(3):292-298. PubMed ID: 30509056
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.
    Samanta A; Srivastava A; Mandal K; Sarma MS; Poddar U
    Indian J Gastroenterol; 2023 Aug; 42(4):569-574. PubMed ID: 36753038
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.
    Parini R; Furlan F; Notarangelo L; Spinazzola A; Uziel G; Strisciuglio P; Concolino D; Corbetta C; Nebbia G; Menni F; Rossi G; Maggioni M; Zeviani M
    J Hepatol; 2009 Jan; 50(1):215-21. PubMed ID: 19012992
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
    Al-Hussaini A; Faqeih E; El-Hattab AW; Alfadhel M; Asery A; Alsaleem B; Bakhsh E; Ali A; Alasmari A; Lone K; Nahari A; Eyaid W; Al Balwi M; Craig K; Butterworth A; He L; Taylor RW
    J Pediatr; 2014 Mar; 164(3):553-9.e1-2. PubMed ID: 24321534
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Twinkle-Associated Mitochondrial DNA Depletion.
    Remtulla S; Emilie Nguyen CT; Prasad C; Campbell C
    Pediatr Neurol; 2019 Jan; 90():61-65. PubMed ID: 30391088
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.