List of works - Roshni Singaraja

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.

scientific article published in May 1999

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

scientific article

A kinesin is present at unique sertoli/spermatid adherens junctions in rat and mouse testes

scientific article published on 12 September 2007

A model for spontaneous B-lineage lymphomas in IgHmu-HOX11 transgenic mice.

scientific article published on November 1998

ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels.

scientific article

ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.

scientific article

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice.

scientific article published on 24 October 2007

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

scientific article

Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus

scientific article

Adoptive transfer of genetically modified human hematopoietic stem cells into preimmune canine fetuses

scientific article published on 01 February 1999

Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1.

scientific article published on May 2003

Altered palmitoylation and neuropathological deficits in mice lacking HIP14.

scientific article published on 20 July 2011

Alternate transcripts expressed in response to diet reflect tissue-specific regulation of ABCA1

article

Bile Acids: A Communication Channel in the Gut-Brain Axis

scientific article published on 21 October 2020

Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract

scientific article

Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease.

scientific article published on September 2002

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

scientific article published on 24 July 2018

Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation.

scientific article

Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene

scientific article (publication date: August 2003)

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.

scientific article

HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis

scientific article (publication date: November 2002)

Hepatic ATP-Binding Cassette Transporter A1 Is a Key Molecule in High-Density Lipoprotein Cholesteryl Ester Metabolism in Mice

article

Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease.

scientific article published on 16 October 2012

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.

scientific article

Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain

scientific article

Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development.

scientific article

Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.

scientific article published in October 2002

In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease.

scientific article published on January 1999

Increased ABCA1 activity protects against atherosclerosis.

scientific article

Loss of Cyp8b1 improves glucose homeostasis by increasing GLP-1.

scientific article published on 22 October 2014

Loss of α-catenin elicits a cholestatic response and impairs liver regeneration.

scientific article

Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia.

scientific article published on 18 March 2013

Memory and synaptic deficits in Hip14/DHHC17 knockout mice.

scientific article

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

scientific article

Neuronal palmitoyl acyl transferases exhibit distinct substrate specificity

scientific article published on 19 March 2009

Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans

scientific article published on 01 June 2011

Opsismodysplasia: implications of mutations in the developmental gene INPPL1.

scientific article published on 24 March 2013

Palmitoylation of caspase-6 by HIP14 regulates its activation

scientific article published on 2 December 2016

Physiologically regulated transgenic ABCA1 does not reduce amyloid burden or amyloid-beta peptide levels in vivo.

scientific article

Preclinical Assessment of Human Hematopoietic Progenitor Cell Transduction in Long-Term Marrow Cultures

scientific article published on 10 November 1996

Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux.

scientific article published on 23 August 2002

Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi

scientific article

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

scientific article

Stem cell-derived polarized hepatocytes

scientific article published on 03 April 2020

Synaptic imbalance, stereotypies, and impaired social interactions in mice with altered neuroligin 2 expression

scientific journal article

TREM2: a new risk factor for Alzheimer's disease ⬇️

scientific article published on 01 June 2013

Targeted deletion of hepatocyte ABCA1 leads to very low density lipoprotein triglyceride overproduction and low density lipoprotein hypercatabolism

scientific article

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

scientific article

The dynamics of macrophage infiltration into the arterial wall during atherosclerotic lesion development in low-density lipoprotein receptor knockout mice

scientific article

The influence of huntingtin protein size on nuclear localization and cellular toxicity.

scientific article published on June 1998

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease

scientific article

Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis.

scientific article published on 5 February 2009

Tracking brain palmitoylation change: predominance of glial change in a mouse model of Huntington's disease

scientific article published on 7 November 2013

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families ⬇️

scientific article published on June 24, 2013

Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.

scientific article

List of works by Roshni Singaraja

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

A kinesin is present at unique sertoli/spermatid adherens junctions in rat and mouse testes

A model for spontaneous B-lineage lymphomas in IgHmu-HOX11 transgenic mice.

ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels.

ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice.

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus

Adoptive transfer of genetically modified human hematopoietic stem cells into preimmune canine fetuses

Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1.

Altered palmitoylation and neuropathological deficits in mice lacking HIP14.

Alternate transcripts expressed in response to diet reflect tissue-specific regulation of ABCA1

Bile Acids: A Communication Channel in the Gut-Brain Axis

Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract

Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease.

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation.

Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene

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.

HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis

Hepatic ATP-Binding Cassette Transporter A1 Is a Key Molecule in High-Density Lipoprotein Cholesteryl Ester Metabolism in Mice

Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease.

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.

Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain

Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development.

Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.

In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease.

Increased ABCA1 activity protects against atherosclerosis.

Loss of Cyp8b1 improves glucose homeostasis by increasing GLP-1.

Loss of α-catenin elicits a cholestatic response and impairs liver regeneration.

Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia.

Memory and synaptic deficits in Hip14/DHHC17 knockout mice.

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

Neuronal palmitoyl acyl transferases exhibit distinct substrate specificity

Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans

Opsismodysplasia: implications of mutations in the developmental gene INPPL1.

Palmitoylation of caspase-6 by HIP14 regulates its activation

Physiologically regulated transgenic ABCA1 does not reduce amyloid burden or amyloid-beta peptide levels in vivo.

Preclinical Assessment of Human Hematopoietic Progenitor Cell Transduction in Long-Term Marrow Cultures

Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux.

Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Stem cell-derived polarized hepatocytes

Synaptic imbalance, stereotypies, and impaired social interactions in mice with altered neuroligin 2 expression

TREM2: a new risk factor for Alzheimer's disease ⬇️

Targeted deletion of hepatocyte ABCA1 leads to very low density lipoprotein triglyceride overproduction and low density lipoprotein hypercatabolism

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

The dynamics of macrophage infiltration into the arterial wall during atherosclerotic lesion development in low-density lipoprotein receptor knockout mice

The influence of huntingtin protein size on nuclear localization and cellular toxicity.

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease

Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis.

Tracking brain palmitoylation change: predominance of glial change in a mouse model of Huntington's disease

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families ⬇️

Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.