| FBXL4: safeguarding against mitochondrial depletion through suppression of mitophagy. | FBXL4: safeguarding against mitochondrial depletion through suppression of mitophagy.
Kulkarni P, Nguyen-Dien GT, Kozul KL, Pagan JK., Free PMC Article | 10/29/2024 |
| PPTC7 antagonizes mitophagy by promoting BNIP3 and NIX degradation via SCF[FBXL4]. | PPTC7 antagonizes mitophagy by promoting BNIP3 and NIX degradation via SCF(FBXL4).
Nguyen-Dien GT, Townsend B, Kulkarni PG, Kozul KL, Ooi SS, Eldershaw DN, Weeratunga S, Liu M, Jones MJ, Millard SS, Ng DC, Pagano M, Bonfim-Melo A, Schneider T, Komander D, Lazarou M, Collins BM, Pagan JK., Free PMC Article | 08/21/2024 |
| Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome. | Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome.
Gao K, Chen Y, Mo R, Wang C., Free PMC Article | 02/14/2024 |
| FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors. | FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors.
Nguyen-Dien GT, Kozul KL, Cui Y, Townsend B, Kulkarni PG, Ooi SS, Marzio A, Carrodus N, Zuryn S, Pagano M, Parton RG, Lazarou M, Millard SS, Taylor RW, Collins BM, Jones MJ, Pagan JK., Free PMC Article | 06/30/2023 |
| FBXL4 ubiquitin ligase deficiency promotes mitophagy by elevating NIX levels. | FBXL4 ubiquitin ligase deficiency promotes mitophagy by elevating NIX levels.
Elcocks H, Brazel AJ, McCarron KR, Kaulich M, Husnjak K, Mortiboys H, Clague MJ, Urbé S., Free PMC Article | 06/30/2023 |
| FBXL4 deficiency increases mitochondrial removal by autophagy. | 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., Free PMC Article | 07/24/2021 |
| Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13. | 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. | 06/26/2021 |
| FBXL4 protein promotes mitochondrial fusion. The C584R FBXL4 variant cannot promote mitochondrial fusion. | 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, Care4Rare Canada, Khan A, Shutt TE. | 05/30/2020 |
| Study found a common genomic copy number loss at 6q16.1-16.2, containing the FBXL4 gene in prostate cancer bone metastases. Loss of FBXL4 was also detected in primary tumors and it was highly associated with prognostic factors including high Gleason score, PSA, as well as poor patient survival, suggesting that FBXL4 loss contributes to prostate cancer progression. | Identification of FBXL4 as a Metastasis Associated Gene in Prostate Cancer.
Stankiewicz E, Mao X, Mangham DC, Xu L, Yeste-Velasco M, Fisher G, North B, Chaplin T, Young B, Wang Y, Kaur Bansal J, Kudahetti S, Spencer L, Foster CS, Møller H, Scardino P, Oliver RT, Shamash J, Cuzick J, Cooper CS, Berney DM, Lu YJ., Free PMC Article | 01/19/2019 |
| Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease. | 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. | 06/23/2018 |
| Overall, FBXL4 defects account for at least 0.7% (6 out of 808) of subjects suspected to have a mitochondrial disorder, and as high as 14.3% (4 out of 28) in young children with congenital lactic acidosis and clinical features of mitochondrial disease. Including FBLX4 in the mitochondrial diseases panel should be particularly important for patients with congenital lactic acidosis | 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. | 07/1/2017 |
| On clinical indication of mitochondrial encephalomyopathy, sequencing of FBXL4 should be performed, even when the activity levels of the MRC enzymes are normal | 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. | 02/18/2017 |
| A clinical pattern of early-onset encephalopathy, persistent lactic acidosis, profound muscular hypotonia and typical facial dysmorphism should prompt initiation of molecular genetic analysis of FBXL4. | 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., Free PMC Article | 07/16/2016 |
| These data strongly support a role for FBXL4 in controlling bioenergetic homeostasis and mtDNA maintenance. | 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., Free PMC Article | 11/16/2013 |
| Mutations in FBXL4 are disease causing and establish FBXL4 as a mitochondrial protein with a possible role in maintaining mtDNA integrity and stability. | 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., Free PMC Article | 11/16/2013 |
| SKP1-Cul1-F-box and leucine-rich repeat protein 4 (SCF-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (JMJD2A) protein | The SKP1-Cul1-F-box and leucine-rich repeat protein 4 (SCF-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (JMJD2A) protein.
Van Rechem C, Black JC, Abbas T, Allen A, Rinehart CA, Yuan GC, Dutta A, Whetstine JR., Free PMC Article | 10/29/2011 |