Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease

Human Molecular Genetics

Volumn 24, Issue 1, 2015, Pages 213-229

  Pla Martín, David ^a,b   Calpena, Eduardo ^a,b   Lupo, Vincenzo ^a,b   Márquez, Celedonio ^c   Rivas, Eloy ^c   Sivera, Rafael ^d,e   Sevilla, Teresa ^d,e,f   Palau, Francesc ^a,b,g   Espinós, Carmen ^a,b,f  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^d HOSPITAL UNIVERSITARIO LA FE   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^f UNIVERSITY OF VALENCIA   (Spain)

^g UNIVERSITY OF CASTILLA LA MANCHA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM RELEASE ACTIVATED CALCIUM CHANNEL; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; JUNCTOPHILIN 1; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; RNA DIRECTED DNA POLYMERASE; STROMAL INTERACTION MOLECULE 1; UNCLASSIFIED DRUG; CALCIUM; GDAP PROTEIN; JUNCTOPHILIN; NERVE PROTEIN; STIM1 PROTEIN, HUMAN; TUMOR PROTEIN;

ARTICLE; CALCIUM HOMEOSTASIS; CALCIUM TRANSPORT; CHANNEL GATING; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; ENDOPLASMIC RETICULUM MEMBRANE; GENE CLUSTER; GENE MUTATION; GENE SILENCING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; JUNCTOPHILIN 1 GENE; MEMBRANE STRUCTURE; MITOCHONDRION; MODIFIER GENE; MOLECULAR PATHOLOGY; NERVE CELL; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; SKELETAL MUSCLE; ANIMAL; CELL LINE; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MOLECULAR EVOLUTION; MOUSE; MUTATION; PATHOLOGY; PHYLOGENY;

VERTEBRATA;

ANIMALS; CALCIUM; CELL LINE; CHARCOT-MARIE-TOOTH DISEASE; EVOLUTION, MOLECULAR; GENES, MODIFIER; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MEMBRANE PROTEINS; MICE; MITOCHONDRIA; MUTATION; NEOPLASM PROTEINS; NERVE TISSUE PROTEINS; PHYLOGENY;

EID: 84922560511     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu440     Document Type: Article

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