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Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 08/2005, Volume 115, Issue 8, pp. 2010 - 2017
Journal Article
PLoS genetics, ISSN 1553-7404, 2018, Volume 14, Issue 11, p. e1007817
...) gene in a child displaying neurodevelopmental defects and intellectual disability. To test the pathogenicity of this novel human Kif6 mutation we engineered an analogous C-terminal truncating mutation in mouse... 
TRANSPORT | IDIOPATHIC SCOLIOSIS | FLUID-FLOW | POLARITY | MODELS | KIF5C | GENES | GENETICS & HEREDITY | CILIA | ASTROCYTES | Sequence Deletion | Humans | Male | Neurodevelopmental Disorders - genetics | Intellectual Disability - genetics | Tissue Distribution | Base Sequence | Kinesin - genetics | Female | Models, Animal | Hydrocephalus - genetics | Child | Amino Acid Sequence | Gene Expression | Cilia - pathology | Animals, Genetically Modified | Kinesin - deficiency | Xenopus laevis | Ependyma - metabolism | Mice, Transgenic | Zebrafish | Neurodevelopmental Disorders - pathology | Cilia - metabolism | Kinesin - metabolism | Ependyma - abnormalities | Homozygote | Animals | Neurodevelopmental Disorders - metabolism | Pedigree | Consanguinity | Kinesin - physiology | Mice | Mutation | Brain | Gene mutations | Physiological aspects | Genetic research | Genetic aspects | Research | Neurological research | Neurogenesis | Ventricles | Kinesin | Pediatrics | Motility | Hydrocephalus | Intellectual disabilities | Fluid flow | Homeostasis | Cardiovascular disease | Genomes | Cerebrospinal fluid | Gene deletion | Basal bodies | Clonal deletion | Genetics | Localization | Supervision | Cilia | Scanning electron microscopy | Transgenic mice | Cell division | Epidermis | Pathogenicity | Medicine | Ependymal cells | Brain research | Hospitals | Stem cells | Neurodevelopment | Ventricle | Immunofluorescence
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2009, Volume 106, Issue 52, pp. 22480 - 22485
Huntington disease (HD) is an inherited neurological disorder caused by a polyglutamine expansion in the protein huntingtin and is characterized by selective neurodegeneration that preferentially occurs in striatal medium spiny neurons... 
Proteins | Brain | Phenotypes | Neuroscience | Astrocytes | Transgenic animals | Neurons | Neuroglia | Huntington disease | Mice | Polyglutamine | Glia | Glutamate | Neurodegeneration | Excitotoxicity | NEURODEGENERATIVE DISEASE | CONTRIBUTE | MULTIDISCIPLINARY SCIENCES | neurodegeneration | polyglutamine | GLIAL-CELLS | glia | GLUTAMATE TRANSPORT | PATHOGENESIS | NEURONS | INTRANUCLEAR INCLUSIONS | ACCUMULATION | excitotoxicity | glutamate | TRANSGENIC MICE | Glial Fibrillary Acidic Protein - genetics | Humans | Huntington Disease - pathology | Sp1 Transcription Factor - metabolism | DNA Primers - genetics | Gliosis - pathology | Aging - genetics | Base Sequence | Excitatory Amino Acid Transporter 2 - genetics | Nuclear Proteins - genetics | Huntington Disease - physiopathology | Recombinant Proteins - metabolism | Promoter Regions, Genetic | Gene Expression | Gliosis - genetics | Nerve Tissue Proteins - physiology | Brain - physiopathology | Mice, Transgenic | Recombinant Proteins - genetics | Excitatory Amino Acid Transporter 2 - metabolism | Nerve Tissue Proteins - genetics | Aging - pathology | Huntingtin Protein | Astrocytes - physiology | Phenotype | Animals | Aging - physiology | Brain - pathology | Huntington Disease - genetics | Glutamic Acid - metabolism | Nuclear Proteins - physiology | Mutation | Huntington's chorea | Physiological aspects | Development and progression | Genetic aspects | Risk factors | Nerve proteins | Biological Sciences
Journal Article