Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS

Neuropathology

Volumn 36, Issue 2, 2016, Pages 125-134

  Bury, Joanna J ^a   Highley, J Robin ^a   Cooper Knock, Johnathan ^a   Goodall, Emily F ^a   Higginbottom, Adrian ^a   McDermott, Christopher J ^a   Ince, Paul G ^a   Shaw, Pamela J ^a   Kirby, Janine ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

Amyotrophic lateral sclerosis; C9ORF72; Inclusion bodies; Multifactorial inheritance; Optineurin

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; DIPEPTIDE; DNA; FUSED IN SARCOMA PROTEIN; GLUTAMIC ACID; LYSINE; METHIONINE; OPTINEURIN; RAB PROTEIN; RAB8 PROTEIN; TAR DNA BINDING PROTEIN; UBIQUITIN; UNCLASSIFIED DRUG; C9ORF72 PROTEIN, HUMAN; DNA BINDING PROTEIN; OPTN PROTEIN, HUMAN; PROTEIN; TDP-43 PROTEIN, HUMAN; TRANSCRIPTION FACTOR IIIA;

5' UNTRANSLATED REGION; ADULT; AFRICAN; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARM WEAKNESS; ARTICLE; BINDING SITE; BULBAR PARALYSIS; CARDIOPULMONARY INSUFFICIENCY; CAUSE OF DEATH; CELL INCLUSION; CELL LABELING; CELL LOSS; CELL VACUOLE; CEREBELLUM; CHROMOSOME 9; CHROMOSOME 9 OPEN READING FRAME 72; CHROMOSOME MUTATION; CLINICAL FEATURE; COGNITION; COHORT ANALYSIS; COMPUTER MODEL; CONTROLLED STUDY; DAILY LIFE ACTIVITY; DEMENTIA; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; E322K GENE; ELECTROMYOGRAPHY; ETHNIC DIFFERENCE; EXON; FAMILY HISTORY; FASCICULATION; FEMALE; FRONTAL CORTEX; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOME; GENOME ANALYSIS; GLIA CELL; HETEROZYGOTE; HIPPOCAMPUS; HISTORY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYSTERECTOMY; IMMUNOHISTOCHEMISTRY; INTRON; LIMB DISEASE; LIMB WEAKNESS; MALE; MALNUTRITION; MEDICAL HISTORY; MENORRHAGIA; MENTAL INSTABILITY; MIGRAINE; MISSENSE MUTATION; MOTONEURON; MULTIFACTORIAL INHERITANCE; MUTATIONAL ANALYSIS; NEOCORTEX; NERVE DEGENERATION; NEUROPATHOLOGY; NEUROPIL; OLIGOGENIC INHERITANCE; ONSET AGE; OVARY CYST; PHENOTYPE; POPULATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RESPIRATORY TRACT DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; SPINAL CORD VENTRAL HORN; UBIQUITINATION; UNITED KINGDOM; VENOUS BLOOD; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; MALE; MIDDLE AGED; MULTIFACTORIAL INHERITANCE; MUTATION; PEDIGREE; PHENOTYPE; PROTEINS; TRANSCRIPTION FACTOR TFIIIA;

EID: 84940185721     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/neup.12240     Document Type: Article

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