Found: 9
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Metabolic labelling of a subpopulation of small extracellular vesicles using a fluorescent palmitic acid analogue.
- Published in:
- Journal of Extracellular Vesicles, 2023, v. 12, n. 12, p. 1, doi. 10.1002/jev2.12392
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- Article
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14656, doi. 10.3390/ijms232314656
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- Article
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 172, doi. 10.1111/cge.13775
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- Article
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 561, doi. 10.1093/hmg/ddab270
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- Publication type:
- Article
BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.
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- Human Molecular Genetics, 2015, v. 24, n. 15, p. 4198, doi. 10.1093/hmg/ddv153
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- Article
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5814, doi. 10.1093/hmg/ddu299
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- Publication type:
- Article
Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5159, doi. 10.1093/hmg/dds367
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- Publication type:
- Article
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 15, p. 2987, doi. 10.1093/hmg/ddq204
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- Publication type:
- Article
Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8313, doi. 10.3390/ijms25158313
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- Publication type:
- Article