| human | Q5 |
| P734 | family name | MacDonald | Q52984204 |
| MacDonald | Q52984204 | ||
| MacDonald | Q52984204 | ||
| P106 | occupation | researcher | Q1650915 |
| Q28391627 | A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice |
| Q30448206 | A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. |
| Q34412206 | A human single-chain Fv intrabody preferentially targets amino-terminal Huntingtin's fragments in striatal models of Huntington's disease |
| Q49962235 | A modifier of Huntington's disease onset at the MLH1 locus |
| Q33543359 | A novel approach to investigate tissue-specific trinucleotide repeat instability |
| Q24797424 | An over-expression system for characterizing Ppt1 function in Drosophila |
| Q33815561 | An ovine transgenic Huntington's disease model |
| Q36310179 | Assessment of cortical and striatal involvement in 523 Huntington disease brains |
| Q28591948 | Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis |
| Q24533603 | Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3 |
| Q45302420 | Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease |
| Q30416270 | Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset |
| Q79427967 | Candidate loci for Zimmermann-Laband syndrome at 3p14.3. |
| Q46469228 | Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project |
| Q36718909 | Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project |
| Q35098204 | Characterization of mouse striatal precursor cell lines expressing functional dopamine receptors |
| Q56591462 | Characterization of the G Protein-coupled Receptor Kinase GRK4 |
| Q34130824 | Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes |
| Q35214662 | Chromosome substitution strain assessment of a Huntington's disease modifier locus |
| Q30278084 | Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials |
| Q78358538 | Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth |
| Q30425027 | Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region |
| Q30424800 | Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration |
| Q42406353 | Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression |
| Q45299937 | Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease |
| Q27341119 | Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum |
| Q35288349 | Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative |
| Q80007623 | Discovery of bioactive small-molecule inhibitor of poly adp-ribose polymerase: implications for energy-deficient cells |
| Q36451466 | Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities |
| Q24643899 | Disruption of neurexin 1 associated with autism spectrum disorder |
| Q27354870 | Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells |
| Q34675885 | Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy |
| Q43931334 | Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice |
| Q28507134 | Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice |
| Q44605170 | Enhanced Akt signaling is an early pro-survival response that reflects N-methyl-D-aspartate receptor activation in Huntington's disease knock-in striatal cells |
| Q55410804 | Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). |
| Q30445013 | Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. |
| Q45307085 | Expanding the notion of disease in Huntington's disease |
| Q24322817 | Functionally defective germline variants of sialic acid acetylesterase in autoimmunity |
| Q45300413 | Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates |
| Q64886171 | Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. |
| Q33256755 | Genetic analysis of the GRIK2 modifier effect in Huntington's disease |
| Q45301024 | Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice |
| Q38243002 | Genetic modifiers of Huntington's disease |
| Q30445842 | Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study |
| Q45298206 | HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism |
| Q35056067 | HD CAG-correlated gene expression changes support a simple dominant gain of function |
| Q37221971 | Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease |
| Q38612630 | Haplotype-based stratification of Huntington's disease |
| Q28386493 | HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation |
| Q45301191 | High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds |
| Q50298280 | Highly Expandable Human iPS Cell-Derived Neural Progenitor Cells (NPC) and Neurons for Central Nervous System Disease Modeling and High-Throughput Screening |
| Q35253059 | Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation |
| Q52685690 | HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction. |
| Q44355271 | Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum |
| Q28590634 | Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules |
| Q33594204 | Huntingtin facilitates polycomb repressive complex 2. |
| Q28566357 | Huntingtin inhibits caspase-3 activation |
| Q38447132 | Huntingtin promotes mTORC1 signaling in the pathogenesis of Huntington's disease. |
| Q28182055 | Huntingtin: alive and well and working in middle management |
| Q30438950 | Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study |
| Q45295002 | Huntington's Disease-like 2 (HDL2) in North America and Japan |
| Q79121423 | Huntington's disease |
| Q36531069 | Huntington's disease: seeing the pathogenic process through a genetic lens |
| Q42181050 | Huntington's disease: the case for genetic modifiers |
| Q44129400 | Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice |
| Q40421660 | Important but not Enough - Information about HD Related Topics and Peer and Professional Support for Young Adults from HD Families |
| Q24813199 | Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo |
| Q42688205 | Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study |
| Q44280721 | Insoluble TATA-binding protein accumulation in Huntington's disease cortex. |
| Q36914722 | Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease |
| Q33609937 | Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes |
| Q45020432 | Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death |
| Q30489530 | Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice |
| Q34424265 | Meclizine is neuroprotective in models of Huntington's disease |
| Q24791822 | Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis |
| Q36569413 | Metabolic disruption identified in the Huntington's disease transgenic sheep model |
| Q44294617 | Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum |
| Q40646395 | Molecular investigation of TBP allele length: a SCA17 cellular model and population study |
| Q40551652 | Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release |
| Q24294966 | Mutations in TITF-1 are associated with benign hereditary chorea |
| Q24633059 | Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse |
| Q44607270 | Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport |
| Q34514433 | No post-genetics era in human disease research |
| Q55207041 | Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity. |
| Q45300407 | Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels |
| Q34188178 | Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. |
| Q30448742 | PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study |
| Q34588532 | Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span |
| Q48840079 | Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. |
| Q63951832 | Plans for HDBase—a research community website for Huntington's Disease |
| Q30424048 | Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset |
| Q55020670 | Population-specific genetic modification of Huntington's disease in Venezuela. |
| Q37604396 | Potential molecular consequences of transgene integration: The R6/2 mouse example |
| Q45306693 | Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients |
| Q45304534 | Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder |
| Q35860947 | RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression |
| Q28300820 | Regulation of intracellular accumulation of mutant Huntingtin by Beclin 1 |
| Q24799882 | Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation |
| Q24310080 | Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease |
| Q45305678 | Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease |
| Q36045312 | Sequence-Level Analysis of the Major European Huntington Disease Haplotype |
| Q44316963 | Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice |
| Q40590116 | Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway |
| Q34994813 | Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis |
| Q45307289 | Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease |
| Q30483013 | Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models |
| Q30417570 | TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease |
| Q24292042 | TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence |
| Q48818717 | Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease |
| Q36579812 | The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease |
| Q44235288 | The HD mutation does not alter neuronal death in the striatum of Hdh(Q92) knock-in mice after mild focal ischemia |
| Q36559246 | The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease |
| Q45303652 | The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. |
| Q34290116 | The serum- and glucocorticoid-induced kinase SGK inhibits mutant huntingtin-induced toxicity by phosphorylating serine 421 of huntingtin. |
| Q51415889 | Transcriptional regulatory networks underlying gene expression changes in Huntington's disease. |
| Q36096140 | Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies |
| Q28469280 | Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism |
| Q37073913 | Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset |
| Q39333674 | Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease. |
| Q35147342 | miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement |
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