about
Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domainA gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's diseaseMutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathyAccurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 geneEfflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 geneCaspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tractSynaptic imbalance, stereotypies, and impaired social interactions in mice with altered neuroligin 2 expressionAltered palmitoylation and neuropathological deficits in mice lacking HIP14.Evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease in cell culture and in transgenic mice expressing mutant huntingtin.Targeted deletion of hepatocyte ABCA1 leads to very low density lipoprotein triglyceride overproduction and low density lipoprotein hypercatabolismWild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.Loss of α-catenin elicits a cholestatic response and impairs liver regeneration.Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation.The dynamics of macrophage infiltration into the arterial wall during atherosclerotic lesion development in low-density lipoprotein receptor knockout miceTargeted next-generation sequencing to diagnose disorders of HDL cholesterol.A model for spontaneous B-lineage lymphomas in IgHmu-HOX11 transgenic mice.Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice.Neuronal palmitoyl acyl transferases exhibit distinct substrate specificityMemory and synaptic deficits in Hip14/DHHC17 knockout mice.Increased ABCA1 activity protects against atherosclerosis.Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1.Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease.Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux.Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1.In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease.The influence of huntingtin protein size on nuclear localization and cellular toxicity.Tracking brain palmitoylation change: predominance of glial change in a mouse model of Huntington's disease.Loss of Cyp8b1 improves glucose homeostasis by increasing GLP-1.ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels.Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia.Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease.A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.Palmitoylation of caspase-6 by HIP14 regulates its activation.Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development.Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis.ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.Physiologically regulated transgenic ABCA1 does not reduce amyloid burden or amyloid-beta peptide levels in vivo.Opsismodysplasia: implications of mutations in the developmental gene INPPL1.
P50
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P50
description
Forscher
@de
investigador
@es
researcher
@en
ricercatore
@it
wetenschapper
@nl
研究員
@ja
研究者
@zh
name
Roshni Singaraja
@en
Singaraja R
@nl
type
label
Roshni Singaraja
@en
Singaraja R
@nl
altLabel
Singaraja R
@en
prefLabel
Roshni Singaraja
@en
Singaraja R
@nl
P106
P31
P496
0000-0002-3418-3867