Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

American Journal of Human Genetics

Volumn 100, Issue 2, 2017, Pages 297-315

  Riessland, Markus ^a   Kaczmarek, Anna ^a   Schneider, Svenja ^a   Swoboda, Kathryn J ^b   Löhr, Heiko ^a   Bradler, Cathleen ^a   Grysko, Vanessa ^a   Dimitriadi, Maria ^c   Hosseinibarkooie, Seyyedmohsen ^a   Torres Benito, Laura ^a   Peters, Miriam ^a   Upadhyay, Aaradhita ^a   Biglari, Nasim ^a   Kröber, Sandra ^a   Hölker, Irmgard ^a   Garbes, Lutz ^a   Gilissen, Christian ^d   Hoischen, Alexander ^d   Nürnberg, Gudrun ^a   Nürnberg, Peter ^a   Walter, Michael ^e   Rigo, Frank ^f   Bennett, C Frank ^f   Kye, Min Jeong ^a   Hart, Anne C ^c   Hammerschmidt, Matthias ^a   Kloppenburg, Peter ^a   Wirth, Brunhilde ^a   more..

^a UNIVERSITY OF COLOGNE   (Germany)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c BROWN UNIVERSITY   (United States)

^d RADBOUD UNIVERSITY   (Netherlands)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f ISIS PHARMACEUTICALS   (United States)

Author keywords

asymptomatic; endocytosis; genetic modifier; incomplete penetrance; NCALD; neuronal sensor protein; PLS3; SMA; SMN1; SMN2; spinal muscular dystrophy

Indexed keywords

NEUROCALCIN; NEUROCALCIN DELTA; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG; NCALD PROTEIN, HUMAN; SMN1 PROTEIN, HUMAN; SMN2 PROTEIN, HUMAN; TRANSCRIPTOME;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLOOD SAMPLING; CAENORHABDITIS ELEGANS; CELL DIFFERENTIATION; CONTROLLED STUDY; ELECTROSTIMULATION; ENDOCYTOSIS; ENZYME INHIBITION; FIBROBLAST CULTURE; GENE FREQUENCY; GENE OVEREXPRESSION; GENETIC ANALYSIS; GENOME-WIDE ASSOCIATION STUDY; HOUSEKEEPING GENE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; LYMPHOBLASTOID CELL; MOTONEURON; MOUSE; MUSCLE STRENGTH; NEURITE OUTGROWTH; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPINAL MUSCULAR ATROPHY; TRANSMISSION ELECTRON MICROSCOPY; WESTERN BLOTTING; WORM; ZEBRA FISH; ANIMAL; C57BL MOUSE; CELL LINE; DISEASE MODEL; FEMALE; GENE EXPRESSION REGULATION; GENE LOCUS; GENETICS; HOMOZYGOTE; MALE; METABOLISM; MOLECULAR CLONING; MUSCULAR ATROPHY, SPINAL; PATHOLOGY; PC12 CELL LINE; PEDIGREE; RAT;

ANIMALS; CAENORHABDITIS ELEGANS; CELL LINE; CLONING, MOLECULAR; DISEASE MODELS, ANIMAL; ENDOCYTOSIS; FEMALE; GENE EXPRESSION REGULATION; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; MALE; MICE; MICE, INBRED C57BL; MOTOR NEURONS; MUSCULAR ATROPHY, SPINAL; NEUROCALCIN; PC12 CELLS; PEDIGREE; RATS; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN; TRANSCRIPTOME; ZEBRAFISH;

EID: 85010918273     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.01.005     Document Type: Article

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