Search Results - "Wong, Bibiana K.Y"
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Partial rescue of some features of Huntington Disease in the genetic absence of caspase-6 in YAC128 mice
Published in Neurobiology of disease (01-04-2015)“…Abstract Huntington Disease (HD) is a progressive neurodegenerative disease caused by an elongated CAG repeat in the huntingtin ( HTT ) gene that encodes a…”
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Convergent pathogenic pathways in Alzheimer's and Huntington's diseases: shared targets for drug development
Published in Nature reviews. Drug discovery (01-11-2011)“…Key Points Although their aetiology is different, neurodegenerative diseases such as Alzheimer's disease and Huntington's disease have remarkable similarities…”
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Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice
Published in Human molecular genetics (01-05-2012)“…Apoptosis, or programmed cell death, is a cellular pathway involved in normal cell turnover, developmental tissue remodeling, embryonic development, cellular…”
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Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-12-2018)“…Aicardi syndrome is a rare, severe neurodevelopmental disorder classically characterized by the triad of infantile spasms, central chorioretinal lacunae, and…”
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Published in American journal of human genetics (01-08-2019)“…Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human…”
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Convergent pathogenic pathways in Alzheimer’s and Huntington disease: Shared targets for drug development
Published in Nature reviews. Drug discovery (21-10-2011)“…Neurodegenerative diseases exemplified by Alzheimer’s and Huntington disease are characterized by the progressive neuropsychiatric dysfunction and loss of…”
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Co-activator candidate interactions for orphan nuclear receptor NR2E1
Published in BMC genomics (26-10-2016)“…NR2E1 (Tlx) is an orphan nuclear receptor that regulates the maintenance and self-renewal of neural stem cells, and promotes tumourigenesis. Nr2e1-null mice…”
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regulatory toolbox of MiniPromoters to drive selective expression in the brain
Published in Proceedings of the National Academy of Sciences - PNAS (21-09-2010)“…The Pleiades Promoter Project integrates genomewide bioinformatics with large-scale knockin mouse production and histological examination of expression…”
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Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients
Published in Molecular genetics & genomic medicine (01-03-2017)“…Background Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus…”
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Hyperactivity, startle reactivity and cell‐proliferation deficits are resistant to chronic lithium treatment in adult Nr2e1frc/frc mice
Published in Genes, brain and behavior (01-10-2010)“…The NR2E1 region on Chromosome 6q21‐22 has been repeatedly linked to bipolar disorder (BP) and NR2E1 has been associated with BP, and more specifically bipolar…”
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