Article

Deficiency of the Endocytic Protein <i>Hip1</i> Leads to Decreased <i>Gdpd3</i> expression, Low Phosphocholine, and Kypholordosis

2018-08-02

Abstract excerpt

<h4>ABSTRACT</h4> Deficiency of huntingtin interacting protein 1 (Hip1) results in degenerative phenotypes. Here we generated a Hip1 deficiency allele where a floxed transcriptional stop-cassette and a human HIP1 cDNA were knocked-in to intron 1 of mouse Hip1 locus. CMV-Cre- mediated germline excision of the stop-cassette resulted in expression of HIP1 and rescue of the Hip1 knockout phenotype. Mxl-Cre- -me...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 52a10dbf-29a7-5851-b66f-4a70380484cc
DOI: 10.1101/383083

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Deficiency of the Endocytic Protein <i>Hip1</i> Leads to Decreased <i>Gdpd3</i> expression, Low Phosphocholine, and KypholordosisDOI 10.1101/383083Read

Early whole-body mutant huntingtin lowering averts changes in proteins and lipids important for synapse function and white matter maintenance in the LacQ140 mouse modelSemantic proximity Read

Degenerative phenotypes caused by the combined deficiency of murine HIP1 and HIP1r are rescued by human HIP1.Semantic proximity Read

<i>SMPD4</i> mediated sphingolipid metabolism regulates brain and primary cilia developmentSemantic proximity Read

Hip1-related mutant mice grow and develop normally but have accelerated spinal abnormalities and dwarfism in the absence of HIP1.Semantic proximity Read

<i>Drosophila</i> egg-derived tyrosine phosphatase (EDTP): a novel target for improved survivorship to prolonged anoxia and cellular protein aggregatesSemantic proximity Read

PHGDH supports liver ceramide synthesis and sustains lipid homeostasisSemantic proximity Read

CHCHD2 p. Thr61Ile knock‐in mice exhibit motor defects and neuropathological features of Parkinson's diseaseSemantic proximity Read

Tissue-specific downregulation of <i>EDTP</i> suppresses polyglutamine protein aggregates and extends lifespan in <i>Drosophila</i>Semantic proximity Read

Choline transport activity regulates phosphatidylcholine synthesis through choline transporter Hnm1 stability.Semantic proximity Read

SPNS1 is required for the transport of lysosphingolipids and lysoglycerophospholipids from lysosomesSemantic proximity Read

A <i>pcyt-1</i> Allelic Series Reveals In Vivo Consequences of Reduced Phosphatidylcholine Synthesis in <i>C. elegans</i>Semantic proximity Read

Heterozygous LRP1 deficiency causes developmental dysplasia of the hip by impairing triradiate chondrocytes differentiation due to inhibition of autophagySemantic proximity Read