Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs

Cell

Volumn 175, Issue 1, 2018, Pages 239-253.e17

  Meyer, Katrina ^a   Kirchner, Marieluise ^a   Uyar, Bora ^a   Cheng, Jing Yuan ^a   Russo, Giulia ^b   Hernandez Miranda, Luis R ^a   Szymborska, Anna ^a,c   Zauber, Henrik ^a   Rudolph, Ina Maria ^a   Willnow, Thomas E ^a   Akalin, Altuna ^a   Haucke, Volker ^b   Gerhardt, Holger ^a,c,d   Birchmeier, Carmen ^a   Kühn, Ralf ^a,d   Krauss, Michael ^b   Diecke, Sebastian ^a,c,d   Pascual, Juan M ^e   Selbach, Matthias ^a,f  

^a MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^b LEIBNIZ INSTITUT FÜR MOLEKULARE PHARMAKOLOGIE   (Germany)

^c DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^d BERLIN INSTITUTE OF HEALTH   (Germany)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

dileucine motif; endocytic trafficking; epilepsy; Glut1 deficiency syndrome; intrinsic disorder; mass spectrometry; point mutation; protein protein interaction; proteomics

Indexed keywords

ADAPTOR PROTEIN; CLATHRIN; GLUCOSE; GLUCOSE TRANSPORTER 1; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR; LEUCINE; MEMBRANE PROTEIN; PROTEIN CACNA1H; UNCLASSIFIED DRUG; CACNA1H PROTEIN, MOUSE; CALCIUM CHANNEL T TYPE; GLUCOSE TRANSPORTER; INTRINSICALLY DISORDERED PROTEIN; ITPR1 PROTEIN, MOUSE; PEPTIDE; PROTEIN BINDING; SLC2A1 PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EMBRYO; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GLUCOSE TRANSPORT; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; INDUCED PLURIPOTENT STEM CELL; INTRINSICALLY DISORDERED REGION; MISSENSE MUTATION; MOUSE; MUTANT; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; PROTEOMICS; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; BINDING SITE; C57BL MOUSE; CYTOPLASM; DEFICIENCY; DISORDERS OF CARBOHYDRATE METABOLISM; GENETICS; METABOLISM; MUTATION; PHYSIOLOGY; PROCEDURES;

AMINO ACID MOTIFS; AMINO ACID SEQUENCE; ANIMALS; BINDING SITES; CALCIUM CHANNELS, T-TYPE; CARBOHYDRATE METABOLISM, INBORN ERRORS; CLATHRIN; CYTOPLASM; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTORS; INTRINSICALLY DISORDERED PROTEINS; LEUCINE; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; PEPTIDES; PROTEIN BINDING; PROTEOMICS;

EID: 85053074162     PISSN: 00928674     EISSN: 10974172     Source Type: Journal    
DOI: 10.1016/j.cell.2018.08.019     Document Type: Article

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