The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

American Journal of Human Genetics

Volumn 99, Issue 3, 2016, Pages 647-665

  Hosseinibarkooie, Seyyedmohsen ^a   Peters, Miriam ^a   Torres Benito, Laura ^a   Rastetter, Raphael H ^a   Hupperich, Kristina ^a   Hoffmann, Andrea ^a   Mendoza Ferreira, Natalia ^a   Kaczmarek, Anna ^a   Janzen, Eva ^a   Milbradt, Janine ^a   Lamkemeyer, Tobias ^a   Rigo, Frank ^b   Bennett, C Frank ^b   Guschlbauer, Christoph ^a   Büschges, Ansgar ^a   Hammerschmidt, Matthias ^a   Riessland, Markus ^a,c   Kye, Min Jeong ^a   Clemen, Christoph S ^a   Wirth, Brunhilde ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b ISIS PHARMACEUTICALS   (United States)

^c ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; ANTISENSE OLIGONUCLEOTIDE; F ACTIN; PLS3 PROTEIN; SURVIVAL MOTOR NEURON PROTEIN; UNCLASSIFIED DRUG; ACTIN; CALCIUM; CARRIER PROTEIN; CORONIN PROTEINS; F-ACTIN-BINDING PROTEINS; FM1 43; MEMBRANE PROTEIN; PLASTIN; PYRIDINIUM DERIVATIVE; QUATERNARY AMMONIUM DERIVATIVE; SMN1 PROTEIN, HUMAN; SMN2 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOCHEMICAL ANALYSIS; ELECTROSTIMULATION; ENDOCYTOSIS; GENE OVEREXPRESSION; MOTOR PERFORMANCE; MOUSE; NERVE ENDING; NEUROMUSCULAR JUNCTION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEOMICS; SPINAL MUSCULAR ATROPHY; SURVIVAL; ZEBRA FISH; ANIMAL; AXON; DISEASE MODEL; GENETICS; HUMAN; MALE; METABOLISM; PATHOLOGY; SYNAPTIC TRANSMISSION;

ACTINS; ANIMALS; AXONS; CALCIUM; CARRIER PROTEINS; DISEASE MODELS, ANIMAL; ENDOCYTOSIS; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MICE; MICROFILAMENT PROTEINS; MUSCULAR ATROPHY, SPINAL; NEUROMUSCULAR JUNCTION; OLIGONUCLEOTIDES, ANTISENSE; PHENOTYPE; PRESYNAPTIC TERMINALS; PYRIDINIUM COMPOUNDS; QUATERNARY AMMONIUM COMPOUNDS; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN; SYNAPTIC TRANSMISSION; ZEBRAFISH;

EID: 84999711589     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.07.014     Document Type: Article

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