TY - GEN AU - Sharifi,Reza AU - Morra,Rosa AU - Appel,C Denise AU - Tallis,Michael AU - Chioza,Barry AU - Jankevicius,Gytis AU - Simpson,Michael A AU - Matic,Ivan AU - Ozkan,Ege AU - Golia,Barbara AU - Schellenberg,Matthew J AU - Weston,Ria AU - Williams,Jason G AU - Rossi,Marianna N AU - Galehdari,Hamid AU - Krahn,Juno AU - Wan,Alexander AU - Trembath,Richard C AU - Crosby,Andrew H AU - Ahel,Dragana AU - Hay,Ron AU - Ladurner,Andreas G AU - Timinszky,Gyula AU - Williams,R Scott AU - Ahel,Ivan TI - Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease SN - 1460-2075 PY - 2013///0627 KW - Amino Acid Sequence KW - Base Sequence KW - Cells, Cultured KW - Child KW - Child, Preschool KW - Family KW - Female KW - Glycoside Hydrolases KW - genetics KW - HEK293 Cells KW - HeLa Cells KW - Humans KW - Male KW - Models, Molecular KW - Molecular Sequence Data KW - Neurodegenerative Diseases KW - enzymology KW - Pedigree KW - Poly Adenosine Diphosphate Ribose KW - Protein Processing, Post-Translational KW - Sequence Homology, Amino Acid KW - Thiolester Hydrolases N1 - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1038/emboj.2013.51 ER -