Insights into the genotype‐phenotype correlation and molecular function of SLC25A46
暂无分享,去创建一个
I. Campeanu | Alexander J Abrams | F. Fontanesi | Natalie B Tan | Elena Buglo | A. Rebelo | A. Kornberg | D. Phelan | Z. Stark | S. Zuchner | Flavia Fontanesi
[1] D. Lindquist,et al. Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice , 2017, Human molecular genetics.
[2] F. Baas,et al. Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. , 2017, Brain : a journal of neurology.
[3] D. Boichard,et al. Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health , 2017, PLoS genetics.
[4] G. Panayotou,et al. Novel insights into SLC25A46-related pathologies in a genetic mouse model , 2017, PLoS genetics.
[5] A. Vashisht,et al. Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria , 2017, Molecular biology of the cell.
[6] I. D. de Coo,et al. Novel pathogenic SLC25A46 splice‐site mutation causes an optic atrophy spectrum disorder , 2017, Clinical genetics.
[7] P. Lockhart,et al. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. , 2016, Brain : a journal of neurology.
[8] M. Monné,et al. Discoveries, metabolic roles and diseases of mitochondrial carriers: A review. , 2016, Biochimica et biophysica acta.
[9] P. Barboni,et al. A neurodegenerative perspective on mitochondrial optic neuropathies , 2016, Acta Neuropathologica.
[10] K. Bhatia,et al. SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy , 2016, Movement disorders : official journal of the Movement Disorder Society.
[11] E. Shoubridge,et al. SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome , 2016, EMBO molecular medicine.
[12] P. Fraser,et al. Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology , 2016, Journal of Cell Science.
[13] Xiaowu Gai,et al. Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform , 2015, Human mutation.
[14] Denis C. Bauer,et al. Cpipe: a shared variant detection pipeline designed for diagnostic settings , 2015, bioRxiv.
[15] R. Schüle,et al. Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder , 2015, Nature Genetics.
[16] David S. Park,et al. OPA1‐dependent cristae modulation is essential for cellular adaptation to metabolic demand , 2014, The EMBO journal.
[17] F. Palmieri. The mitochondrial transporter family SLC25: identification, properties and physiopathology. , 2013, Molecular aspects of medicine.
[18] J. Mulvihill,et al. A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents , 2012, Genetics in Medicine.
[19] A. Gross,et al. Mitochondrial carrier homolog 2 (MTCH2): the recruitment and evolution of a mitochondrial carrier protein to a critical player in apoptosis. , 2012, Experimental cell research.
[20] Matthias Mann,et al. The mitochondrial contact site complex, a determinant of mitochondrial architecture , 2011, The EMBO journal.
[21] M. Zeviani,et al. Isolation of mitochondria for biogenetical studies: An update. , 2010, Mitochondrion.
[22] B. Wollnik,et al. Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings , 2009, Journal of Neurology.
[23] J. McCaffery,et al. Mitochondrial outer and inner membrane fusion requires a modified carrier protein , 2009, The Journal of cell biology.
[24] J. McCaffery,et al. Mitochondrial Fusion Protects against Neurodegeneration in the Cerebellum , 2007, Cell.
[25] Emily M. Coonrod,et al. Ugo1p Is a Multipass Transmembrane Protein with a Single Carrier Domain Required for Mitochondrial Fusion , 2007, Traffic.
[26] Robert Fredriksson,et al. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. , 2006, Genomics.
[27] F. Baas,et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 , 2006, Annals of neurology.
[28] H. Nury,et al. Structural basis for lipid‐mediated interactions between mitochondrial ADP/ATP carrier monomers , 2005, FEBS letters.
[29] R. Jensen,et al. Ugo1p Links the Fzo1p and Mgm1p GTPases for Mitochondrial Fusion* , 2004, Journal of Biological Chemistry.
[30] M. Pericak-Vance,et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A , 2004, Nature Genetics.
[31] G. Lenaers,et al. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. , 2002, Molecular genetics and metabolism.
[32] R. Jensen,et al. UGO1 Encodes an Outer Membrane Protein Required for Mitochondrial Fusion , 2001, The Journal of cell biology.
[33] S. Bhattacharya,et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 , 2000, Nature Genetics.