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ProteomicsINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009272 | Pride
L-serine Inpp5k Bip Phgdh Sil1 
ProteomicsINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009297 | Pride
L-serine Inpp5k Bip Phgdh Sil1 
UnknownKnockdown of INPP5K compromises the differentiation of N2A cells.
Not available
S-EPMC10979461 | biostudies-literature
UnknownThe Prediction and Prognostic Significance of INPP5K Expression in Patients with Liver Cancer.
Not available
S-EPMC7201693 | biostudies-literature
UnknownThe inositol 5-phosphatase INPP5K participates in the fine control of ER organization.
Not available
S-EPMC6168264 | biostudies-literature
UnknownINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Not available
S-EPMC8418339 | biostudies-literature
UnknownMutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy.
Not available
S-EPMC5339112 | biostudies-literature
UnknownMutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Not available
S-EPMC5339217 | biostudies-literature
UnknownINPP5K and Atlastin-1 maintain the nonuniform distribution of ER-plasma membrane contacts in neurons.
Not available
S-EPMC8507493 | biostudies-literature
UnknownAnalysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region.
Not available
S-EPMC4501283 | biostudies-literature
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