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Loss of the mitochondrial i‐AAA protease YME1L leads to ocular dysfunction and spinal axonopathy.
- Published in:
- EMBO Molecular Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.15252/emmm.201809288
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- Publication type:
- Article
SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4117, doi. 10.1093/brain/awad136
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- Publication type:
- Article
AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
- Published in:
- 2012
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- Publication type:
- journal article
AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 4048, doi. 10.1172/JCI64604
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- Publication type:
- Article
Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia.
- Published in:
- 2006
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- Publication type:
- journal article
Astrocyte‐specific deletion of the mitochondrial m‐AAA protease reveals glial contribution to neurodegeneration.
- Published in:
- Glia, 2019, v. 67, n. 8, p. 1526, doi. 10.1002/glia.23626
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- Publication type:
- Article
Regulation of mitochondrial proteostasis by the proton gradient.
- Published in:
- EMBO Journal, 2022, v. 41, n. 16, p. 1, doi. 10.15252/embj.2021110476
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- Publication type:
- Article
CLUH granules coordinate translation of mitochondrial proteins with mTORC1 signaling and mitophagy.
- Published in:
- EMBO Journal, 2020, v. 39, n. 9, p. 1, doi. 10.15252/embj.2019102731
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- Publication type:
- Article
Alternative Splicing of Spg7, a Gene Involved in Hereditary Spastic Paraplegia, Encodes a Variant of Paraplegin Targeted to the Endoplasmic Reticulum.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036337
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- Publication type:
- Article
CLUH controls astrin-1 expression to couple mitochondrial metabolism to cell cycle progression.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.74552
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- Publication type:
- Article
The class 3 PI3K coordinates autophagy and mitochondrial lipid catabolism by controlling nuclear receptor PPARα.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09598-9
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- Publication type:
- Article
BID-dependent release of mitochondrial SMAC dampens XIAP-mediated immunity against Shigella.
- Published in:
- EMBO Journal, 2014, v. 33, n. 19, p. 2171, doi. 10.15252/embj.201387244
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- Publication type:
- Article
Loss of the m- AAA protease subunit AFG3L2 causes mitochondrial transport defects and tau hyperphosphorylation.
- Published in:
- EMBO Journal, 2014, v. 33, n. 9, p. 1011, doi. 10.1002/embj.201387009
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- Publication type:
- Article
Mitochondrial quality control: a matter of life and death for neurons.
- Published in:
- EMBO Journal, 2012, v. 31, n. 6, p. 1336, doi. 10.1038/emboj.2012.38
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- Publication type:
- Article
ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway.
- Published in:
- Life Science Alliance, 2024, v. 7, n. 8, p. 1, doi. 10.26508/lsa.202402620
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- Publication type:
- Article
Reelin: A novel extracellular matrix protein involved in brain lamination.
- Published in:
- BioEssays, 1995, v. 17, n. 10, p. 832, doi. 10.1002/bies.950171003
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- Publication type:
- Article
Plant mitochondrial FMT and its mammalian homolog CLUH controls development and behavior in Arabidopsis and locomotion in mice.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04382-3
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- Publication type:
- Article
Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 6, p. 1808, doi. 10.1093/brain/awr084
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- Publication type:
- Article
Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1.
- Published in:
- BMC Genetics, 2006, v. 7, p. 1
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- Publication type:
- Article
Kallmann syndrome.
- Published in:
- JAMA: Journal of the American Medical Association, 1993, v. 270, n. 22, p. 2713, doi. 10.1001/jama.1993.03510220069036
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- Publication type:
- Article
A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.
- Published in:
- BMC Biology, 2008, v. 6, p. 1, doi. 10.1186/1741-7007-6-31
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- Publication type:
- Article
Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1.
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- Journal of Cell Biology, 2009, v. 187, n. 7, p. 1023, doi. 10.1083/jcb.200906084
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- Publication type:
- Article
UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons.
- Published in:
- European Journal of Neuroscience, 2005, v. 21, n. 12, p. 3291, doi. 10.1111/j.1460-9568.2005.04164.x
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- Publication type:
- Article
Spastin Binds to Lipid Droplets and Affects Lipid Metabolism.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 4, p. 1, doi. 10.1371/journal.pgen.1005149
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- Publication type:
- Article
Loss of Prohibitin Membrane Scaffolds Impairs Mitochondrial Architecture and Leads to Tau Hyperphosphorylation and Neurodegeneration.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003021
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- Publication type:
- Article
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 10, p. 1, doi. 10.1371/journal.pgen.1002325
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- Publication type:
- Article
A pH‐Sensitive Double Chromophore Fluorescent Dye for Live‐Tracking of Lipophagy.
- Published in:
- Chemistry - A European Journal, 2024, v. 30, n. 30, p. 1, doi. 10.1002/chem.202400808
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- Publication type:
- Article
Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 11, p. 2001, doi. 10.1093/hmg/ddp124
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- Publication type:
- Article
The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 22, p. 2781, doi. 10.1093/hmg/ddh309
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- Publication type:
- Article
Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2121, doi. 10.1093/hmg/ddh223
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- Publication type:
- Article
Pleiotropic effects of spastin on neurite growth depending on expression levels.
- Published in:
- Journal of Neurochemistry, 2009, v. 108, n. 5, p. 1277, doi. 10.1111/j.1471-4159.2009.05875.x
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- Publication type:
- Article
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 3, p. 489, doi. 10.1093/hmg/7.3.489
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- Publication type:
- Article
The Kallmann Syndrome Gene Product Expressed in COS Cells is Cleaved on the Cell Surface to Yield a Diffusible Component.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 8, p. 1109, doi. 10.1093/hmg/5.8.1109
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- Publication type:
- Article
Cloning of a human homologue of the Xenopus Iaevis APX gene from the ocular albinism type 1 critical region.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 373
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- Publication type:
- Article
Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1717
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- Publication type:
- Article
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 547
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- Publication type:
- Article
The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 12, p. 1, doi. 10.1371/journal.pgen.1006463
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- Publication type:
- Article