Publication
| Wheeler S, Bhardwaj M, Kenyon V, Ferraz MJ, Aerts JMFG, Sillence DJ, Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1 FEBS letters: 2023 |
| PubMed ID: 38302739 |
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| Records Return:
(2)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM03123 | Female | 9 YR | 451 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM00380 | Female | 35 YR | 397 | parent | TRANSLOCATED CHROMOSOME | GM |
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