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Items: 1 to 20 of 93

1.

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.

Li Z, Peng Y, Hufnagel RB, Hu YC, Zhao C, Queme LF, Khuchua Z, Driver AM, Dong F, Lu QR, Lindquist DM, Jankowski MP, Stottmann RW, Kao WWY, Huang T.

Hum Mol Genet. 2017 Oct 1;26(19):3776-3791. doi: 10.1093/hmg/ddx262.

2.

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.

Duchesne A, Vaiman A, Castille J, Beauvallet C, Gaignard P, Floriot S, Rodriguez S, Vilotte M, Boulanger L, Passet B, Albaric O, Guillaume F, Boukadiri A, Richard L, Bertaud M, Timsit E, Guatteo R, Jaffrézic F, Calvel P, Helary L, Mahla R, Esquerré D, Péchoux C, Liuu S, Vallat JM, Boichard D, Slama A, Vilotte JL.

PLoS Genet. 2017 Apr 4;13(4):e1006597. doi: 10.1371/journal.pgen.1006597. eCollection 2017 Apr.

3.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.

Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212.

4.

Novel insights into SLC25A46-related pathologies in a genetic mouse model.

Terzenidou ME, Segklia A, Kano T, Papastefanaki F, Karakostas A, Charalambous M, Ioakeimidis F, Papadaki M, Kloukina I, Chrysanthou-Piterou M, Samiotaki M, Panayotou G, Matsas R, Douni E.

PLoS Genet. 2017 Apr 4;13(4):e1006656. doi: 10.1371/journal.pgen.1006656. eCollection 2017 Apr.

5.

Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria.

Steffen J, Vashisht AA, Wan J, Jen JC, Claypool SM, Wohlschlegel JA, Koehler CM.

Mol Biol Cell. 2017 Mar 1;28(5):600-612. doi: 10.1091/mbc.E16-07-0545. Epub 2017 Jan 5.

6.

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.

Nguyen M, Boesten I, Hellebrekers DM, Mulder-den Hartog NM, de Coo IF, Smeets HJ, Gerards M.

Clin Genet. 2017 Jan;91(1):121-125. doi: 10.1111/cge.12774. Epub 2016 Apr 8.

PMID:
26951855
7.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.

Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.

8.

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.

Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA.

EMBO Mol Med. 2016 Sep 1;8(9):1019-38. doi: 10.15252/emmm.201506159. Print 2016 Sep.

9.

A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.

Sulaiman RA, Patel N, Alsharif H, Arold ST, Alkuraya FS.

Clin Genet. 2017 Aug;92(2):230-231. doi: 10.1111/cge.12963. Epub 2017 Mar 30. No abstract available.

PMID:
28369803
10.

Novel Drosophila model for mitochondrial diseases by targeting of a solute carrier protein SLC25A46.

Suda K, Ueoka I, Azuma Y, Muraoka Y, Yoshida H, Yamaguchi M.

Brain Res. 2018 Jun 15;1689:30-44. doi: 10.1016/j.brainres.2018.03.028. Epub 2018 Mar 28.

PMID:
29604258
11.

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.

Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, Hentati F, Stevanin G, Amouri R, Durr A, Singleton AB.

Neurodegener Dis. 2017;17(4-5):208-212. doi: 10.1159/000464445. Epub 2017 May 31.

12.

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.

Charlesworth G, Balint B, Mencacci NE, Carr L, Wood NW, Bhatia KP.

Mov Disord. 2016 Aug;31(8):1249-51. doi: 10.1002/mds.26716. Epub 2016 Jul 19. No abstract available.

PMID:
27430653
13.

The Immp2l mutation causes age-dependent degeneration of cerebellar granule neurons prevented by antioxidant treatment.

Liu C, Li X, Lu B.

Aging Cell. 2016 Feb;15(1):167-76. doi: 10.1111/acel.12426. Epub 2015 Nov 30.

14.

Mitochondrial dynamics and inherited peripheral nerve diseases.

Pareyson D, Saveri P, Sagnelli A, Piscosquito G.

Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Epub 2015 Apr 3. Review.

PMID:
25847151
15.

Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.

Bagli E, Zikou AK, Agnantis N, Kitsos G.

In Vivo. 2017 Jul-Aug;31(4):511-525. Review.

16.

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Abrams AJ, Fontanesi F, Tan NBL, Buglo E, Campeanu IJ, Rebelo AP, Kornberg AJ, Phelan DG, Stark Z, Zuchner S.

Hum Mutat. 2018 Dec;39(12):1995-2007. doi: 10.1002/humu.23639. Epub 2018 Sep 17.

PMID:
30178502
17.

Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.

Seifert EL, Gál A, Acoba MG, Li Q, Anderson-Pullinger L, Golenár T, Moffat C, Sondheimer N, Claypool SM, Hajnóczky G.

J Biol Chem. 2016 Dec 9;291(50):26126-26137. Epub 2016 Oct 25.

18.

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

Koch J, Feichtinger RG, Freisinger P, Pies M, Schrödl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB.

J Med Genet. 2016 Apr;53(4):270-8. doi: 10.1136/jmedgenet-2015-103500. Epub 2016 Jan 18.

PMID:
26783368
19.

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.

Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI.

J Clin Invest. 2012 Nov;122(11):4048-58. doi: 10.1172/JCI64604. Epub 2012 Oct 8.

20.

Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics.

Miyamoto Y, Eguchi T, Kawahara K, Hasegawa N, Nakamura K, Funakoshi-Tago M, Tanoue A, Tamura H, Yamauchi J.

Biochem Biophys Res Commun. 2015 Jul 3;462(3):275-81. doi: 10.1016/j.bbrc.2015.04.132. Epub 2015 May 6.

PMID:
25957474

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