134 related articles for article (PubMed ID: 32559514)
1. Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13.
Wang S; Lin L; Wang Y; Wang A; Liu Z; Wu S; Lan X; Jia J; Zhang Y; Yuan F; Wang C; Luo X; Sun X; Avula SK; Tolaymat A; Liu C; Ren Y; Chen Y
J Neurol Sci; 2020 Sep; 416():116948. PubMed ID: 32559514
[TBL] [Abstract][Full Text] [Related]
2. Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion.
Sabouny R; Wong R; Lee-Glover L; Greenway SC; Sinasac DS; ; Khan A; Shutt TE
Biochim Biophys Acta Mol Basis Dis; 2019 Nov; 1865(11):165536. PubMed ID: 31442532
[TBL] [Abstract][Full Text] [Related]
3. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Bonnen PE; Yarham JW; Besse A; Wu P; Faqeih EA; Al-Asmari AM; Saleh MA; Eyaid W; Hadeel A; He L; Smith F; Yau S; Simcox EM; Miwa S; Donti T; Abu-Amero KK; Wong LJ; Craigen WJ; Graham BH; Scott KL; McFarland R; Taylor RW
Am J Hum Genet; 2013 Sep; 93(3):471-81. PubMed ID: 23993193
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
Barøy T; Pedurupillay CR; Bliksrud YT; Rasmussen M; Holmgren A; Vigeland MD; Hughes T; Brink M; Rodenburg R; Nedregaard B; Strømme P; Frengen E; Misceo D
Eur J Med Genet; 2016 Jun; 59(6-7):342-6. PubMed ID: 27182039
[TBL] [Abstract][Full Text] [Related]
5. Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW; Dai H; Almannai M; Wang J; Faqeih EA; Al Asmari A; Saleh MAM; Elamin MAO; Alfadhel M; Alkuraya FS; Hashem M; Aldosary MS; Almass R; Almutairi FB; Alsagob M; Al-Owain M; Al-Sharfa S; Al-Hassnan ZN; Rahbeeni Z; Al-Muhaizea MA; Makhseed N; Foskett GK; Stevenson DA; Gomez-Ospina N; Lee C; Boles RG; Schrier Vergano SA; Wortmann SB; Sperl W; Opladen T; Hoffmann GF; Hempel M; Prokisch H; Alhaddad B; Mayr JA; Chan W; Kaya N; Wong LC
Hum Mutat; 2017 Dec; 38(12):1649-1659. PubMed ID: 28940506
[TBL] [Abstract][Full Text] [Related]
6. Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome.
Gao K; Chen Y; Mo R; Wang C
Autophagy; 2024 Feb; 20(2):460-462. PubMed ID: 37876279
[TBL] [Abstract][Full Text] [Related]
7. Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.
Köse E; Köse M; Edizer S; Akışın Z; Yılmaz ZB; Şahin A; Genel F
Turk J Pediatr; 2020; 62(4):652-656. PubMed ID: 32779419
[TBL] [Abstract][Full Text] [Related]
8. FBXL4 deficiency increases mitochondrial removal by autophagy.
Alsina D; Lytovchenko O; Schab A; Atanassov I; Schober FA; Jiang M; Koolmeister C; Wedell A; Taylor RW; Wredenberg A; Larsson NG
EMBO Mol Med; 2020 Jul; 12(7):e11659. PubMed ID: 32525278
[TBL] [Abstract][Full Text] [Related]
9. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X; Ghezzi D; Johnson MA; Biagosch CA; Shamseldin HE; Haack TB; Reyes A; Tsukikawa M; Sheldon CA; Srinivasan S; Gorza M; Kremer LS; Wieland T; Strom TM; Polyak E; Place E; Consugar M; Ostrovsky J; Vidoni S; Robinson AJ; Wong LJ; Sondheimer N; Salih MA; Al-Jishi E; Raab CP; Bean C; Furlan F; Parini R; Lamperti C; Mayr JA; Konstantopoulou V; Huemer M; Pierce EA; Meitinger T; Freisinger P; Sperl W; Prokisch H; Alkuraya FS; Falk MJ; Zeviani M
Am J Hum Genet; 2013 Sep; 93(3):482-95. PubMed ID: 23993194
[TBL] [Abstract][Full Text] [Related]
10. FBXL4 mutation-caused mitochondrial DNA depletion syndrome is driven by BNIP3/BNIP3L-dependent excessive mitophagy.
Gao K; Xu X; Wang C
Trends Mol Med; 2024 Feb; 30(2):113-116. PubMed ID: 38123379
[TBL] [Abstract][Full Text] [Related]
11. FBXL4: safeguarding against mitochondrial depletion through suppression of mitophagy.
Kulkarni P; Nguyen-Dien GT; Kozul KL; Pagan JK
Autophagy; 2024 Jun; 20(6):1459-1461. PubMed ID: 38423516
[TBL] [Abstract][Full Text] [Related]
12. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.
Dai H; Zhang VW; El-Hattab AW; Ficicioglu C; Shinawi M; Lines M; Schulze A; McNutt M; Gotway G; Tian X; Chen S; Wang J; Craigen WJ; Wong LJ
Clin Genet; 2017 Apr; 91(4):634-639. PubMed ID: 27743463
[TBL] [Abstract][Full Text] [Related]
13.
Ballout RA; Al Alam C; Bonnen PE; Huemer M; El-Hattab AW; Shbarou R
Front Genet; 2019; 10():39. PubMed ID: 30804983
[TBL] [Abstract][Full Text] [Related]
14. Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.
Emperador S; Garrido-Pérez N; Amezcua-Gil J; Gaudó P; Andrés-Sanz JA; Yubero D; Fernández-Marmiesse A; O'Callaghan MM; Ortigoza-Escobar JD; Iriondo M; Ruiz-Pesini E; García-Cazorla A; Gil-Campos M; Artuch R; Montoya J; Bayona-Bafaluy MP
Front Genet; 2019; 10():1300. PubMed ID: 31969900
[TBL] [Abstract][Full Text] [Related]
15. FBXL4 mutations cause excessive mitophagy via BNIP3/BNIP3L accumulation leading to mitochondrial DNA depletion syndrome.
Chen Y; Jiao D; Liu Y; Xu X; Wang Y; Luo X; Saiyin H; Li Y; Gao K; Chen Y; Zhao SM; Ma L; Wang C
Cell Death Differ; 2023 Oct; 30(10):2351-2363. PubMed ID: 37568009
[TBL] [Abstract][Full Text] [Related]
16. A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel
Oncul U; Kose E; Eminoglu FT
Mol Syndromol; 2021 Aug; 12(5):294-299. PubMed ID: 34602956
[TBL] [Abstract][Full Text] [Related]
17. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
Huemer M; Karall D; Schossig A; Abdenur JE; Al Jasmi F; Biagosch C; Distelmaier F; Freisinger P; Graham BH; Haack TB; Hauser N; Hertecant J; Ebrahimi-Fakhari D; Konstantopoulou V; Leydiker K; Lourenco CM; Scholl-Bürgi S; Wilichowski E; Wolf NI; Wortmann SB; Taylor RW; Mayr JA; Bonnen PE; Sperl W; Prokisch H; McFarland R
J Inherit Metab Dis; 2015 Sep; 38(5):905-14. PubMed ID: 25868664
[TBL] [Abstract][Full Text] [Related]
18. Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.
Kuptanon C; Srichomthong C; Ittiwut C; Wechapinan T; Sri-Udomkajorn S; Iamopas O; Phokaew C; Suphapeetiporn K; Shotelersuk V
Gene; 2019 May; 696():21-27. PubMed ID: 30771478
[TBL] [Abstract][Full Text] [Related]
19. Entero-encephalopathy due to FBXL4-related mtDNA depletion syndrome.
Finsterer J
Turk J Pediatr; 2021; 63(5):937-939. PubMed ID: 34738379
[No Abstract] [Full Text] [Related]
20. Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models.
Lavorato M; Nakamaru-Ogiso E; Mathew ND; Herman E; Shah N; Haroon S; Xiao R; Seiler C; Falk MJ
JCI Insight; 2022 Aug; 7(16):. PubMed ID: 35881484
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
