Effects of MFN2 mutation (Homo sapiens)

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Bibliography

1. Fang D, Yan S, Yu Q, Chen D, Yan SS; ''Mfn2 is Required for Mitochondrial Development and Synapse Formation in Human Induced Pluripotent Stem Cells/hiPSC Derived Cortical Neurons.''; Sci Rep, 2016 PubMed Europe PMC Scholia
2. Larrea D, Pera M, Gonnelli A, Quintana-Cabrera R, Akman HO, Guardia-Laguarta C, Velasco KR, Area-Gomez E, Dal Bello F, De Stefani D, Horvath R, Shy ME, Schon EA, Giacomello M; ''MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.''; Hum Mol Genet, 2019 PubMed Europe PMC Scholia
3. Zanfardino P, Amati A, Petracca EA, Santorelli FM, Petruzzella V; ''Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.''; Acta Myol, 2022 PubMed Europe PMC Scholia
4. Misko A, Jiang S, Wegorzewska I, Milbrandt J, Baloh RH; ''Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex.''; J Neurosci, 2010 PubMed Europe PMC Scholia
5. Rizzo F, Ronchi D, Salani S, Nizzardo M, Fortunato F, Bordoni A, Stuppia G, Del Bo R, Piga D, Fato R, Bresolin N, Comi GP, Corti S; ''Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
6. Wang JT, Medress ZA, Barres BA; ''Axon degeneration: molecular mechanisms of a self-destruction pathway.''; J Cell Biol, 2012 PubMed Europe PMC Scholia
7. Misko AL, Sasaki Y, Tuck E, Milbrandt J, Baloh RH; ''Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.''; J Neurosci, 2012 PubMed Europe PMC Scholia
8. Kumar A, Larrea D, Pero ME, Infante P, Conenna M, Shin GJ, Grueber WB, Di Marcotullio L, Area-Gomez E, Bartolini F; ''MFN2-dependent recruitment of ATAT1 coordinates mitochondria motility with alpha-tubulin acetylation and is disrupted in CMT2A.''; bioRxiv, 2023 PubMed Europe PMC Scholia
9. Mou Y, Dein J, Chen Z, Jagdale M, Li XJ; ''MFN2 Deficiency Impairs Mitochondrial Transport and Downregulates Motor Protein Expression in Human Spinal Motor Neurons.''; Front Mol Neurosci, 2021 PubMed Europe PMC Scholia
10. Chandhok G, Lazarou M, Neumann B; ''Structure, function, and regulation of mitofusin-2 in health and disease.''; Biol Rev Camb Philos Soc, 2018 PubMed Europe PMC Scholia
11. Baloh RH, Schmidt RE, Pestronk A, Milbrandt J; ''Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.''; J Neurosci, 2007 PubMed Europe PMC Scholia
12. Lee S, Min KT; ''The Interface Between ER and Mitochondria: Molecular Compositions and Functions.''; Mol Cells, 2018 PubMed Europe PMC Scholia

History

External references

DataNodes

Name	Type	Database reference	Comment
ATAT1	GeneProduct	ENSG00000137343 (Ensembl)
ATP	Metabolite	CHEBI:30616 (ChEBI)
Apoptosis	Pathway	WP254 (WikiPathways)
Autophagy	Pathway	WP4923 (WikiPathways)
BAX	GeneProduct	ENSG00000087088 (Ensembl)
CASP3	GeneProduct	ENSG00000164305 (Ensembl)
CASP8	GeneProduct	ENSG00000064012 (Ensembl)
Ca2+	Metabolite	CHEBI:29108 (ChEBI)
Cardiolipins	Metabolite	CHEBI:28494 (ChEBI)
DCTN1	GeneProduct	ENSG00000204843 (Ensembl)
DYNC1H1	GeneProduct	ENSG00000197102 (Ensembl)
DYNC1I1	GeneProduct	ENSG00000158560 (Ensembl)
DYNC1LI2	GeneProduct	ENSG00000135720 (Ensembl)
DYNC2H1	GeneProduct	ENSG00000187240 (Ensembl)
DYNC2I1	GeneProduct	ENSG00000126870 (Ensembl)
DYNC2I2	GeneProduct	ENSG00000119333 (Ensembl)
Defective mitochondrial axonal transport	Pathway	WP4856 (WikiPathways)
KIF1B	GeneProduct	ENSG00000054523 (Ensembl)
MAP2	GeneProduct	ENSG00000078018 (Ensembl)
MFN2	GeneProduct	ENSG00000116688 (Ensembl)
Na+	Metabolite	CHEBI:29101 (ChEBI)
Phosphatidic acids	Metabolite	CHEBI:16337 (ChEBI)
Phospholipase D	Metabolite	Q700007 (Wikidata)
RAB3A	GeneProduct	ENSG00000105649 (Ensembl)
RAB3B	GeneProduct	ENSG00000169213 (Ensembl)
RAB7A	GeneProduct	ENSG00000075785 (Ensembl)
RABAC1	GeneProduct	ENSG00000105404 (Ensembl)
RHOT1	GeneProduct	ENSG00000126858 (Ensembl)
SNCA	GeneProduct	ENSG00000145335 (Ensembl)
SYPL1	GeneProduct	ENSG00000008282 (Ensembl)
Synaptogenesis	Pathway	WP5231 (WikiPathways)
TP53	GeneProduct	ENSG00000141510 (Ensembl)
TRAK1	GeneProduct	ENSG00000182606 (Ensembl)
TUBB3	GeneProduct	ENSG00000258947 (Ensembl)

Annotated Interactions

No annotated interactions