A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

Brain

Volumn 138, Issue 8, 2015, Pages 2147-2160

  Nahorski, Michael S ^a   Al Gazali, Lihadh ^b   Hertecant, Jozef ^c   Owen, David J ^a   Borner, Georg H H ^a,d   Chen, Ya Chun ^a   Benn, Caroline L ^e   Carvalho, Ofélia P ^a   Shaikh, Samiha S ^a   Phelan, Anne ^e   Robinson, Margaret S ^a   Royle, Stephen J ^f   Woods, C Geoffrey ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^c TAWAM HOSPITAL   (United Arab Emirates)

^d MAX PLANCK INSTITUTE OF BIOCHEMISTRY   (Germany)

^e Neusentis Ltd   (United Kingdom)

^f UNIVERSITY OF WARWICK   (United Kingdom)

Author keywords

clathrin; endosomal trafficking; insensitivity to pain; neurogenesis

Indexed keywords

CLATHRIN HEAVY CHAIN; CLATHRIN HEAVY CHAIN 22; RETINOIC ACID; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; CLTCL1 PROTEIN, HUMAN;

ARTICLE; BRAIN CORTEX; BRAIN DEVELOPMENT; CASE REPORT; CHILD; COGNITIVE DEFECT; CONGENITAL ANALGESIA; CONSANGUINITY; CONTROLLED STUDY; DISEASE SEVERITY; DOWN REGULATION; ENDOCYTOSIS; EXOME; FEMALE; GENE OVEREXPRESSION; GENE SILENCING; HOMOZYGOTE; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MALE; MISSENSE MUTATION; MUTANT; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; NERVE CELL MEMBRANE; NERVE FIBER GROWTH; NERVOUS SYSTEM DEVELOPMENT; NEURAL CREST CELL; NEURAL STEM CELL; PAIN; PAIN RECEPTOR; PEDIGREE; PHENOTYPE; PLURIPOTENT STEM CELL; POLYMERASE CHAIN REACTION; POSTNATAL DEVELOPMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SENSORY DYSFUNCTION; SENSORY NERVE CELL; TOUCH; UPREGULATION; WILD TYPE; CELL DIFFERENTIATION; CELL LINE; CYTOLOGY; GENETICS; METABOLISM; MUTATION; NERVE CELL; PHYSIOLOGY; SKELETAL MUSCLE;

CELL DIFFERENTIATION; CELL LINE; CLATHRIN HEAVY CHAINS; HUMANS; MUSCLE, SKELETAL; MUTATION; NEURAL STEM CELLS; NEUROGENESIS; NEURONS; PAIN; TOUCH;

EID: 84940061598     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv149     Document Type: Article

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