CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

Cell

Volumn 157, Issue 3, 2014, Pages 651-663

  Schaffer, Ashleigh E ^a   Eggens, Veerle R C ^b   Caglayan, Ahmet Okay ^c   Reuter, Miriam S ^d   Scott, Eric ^a   Coufal, Nicole G ^a   Silhavy, Jennifer L ^a   Xue, Yuanchao ^e   Kayserili, Hulya ^f   Yasuno, Katsuhito ^c   Rosti, Rasim Ozgur ^a   Abdellateef, Mostafa ^a   Caglar, Caner ^c   Kasher, Paul R ^b   Cazemier, J Leonie ^b   Weterman, Marian A ^b   Cantagrel, Vincent ^a,g   Cai, Na ^a   Zweier, Christiane ^d   Altunoglu, Umut ^f   Satkin, N Bilge ^f   Aktar, Fesih ^h   Tuysuz, Beyhan ⁱ   Yalcinkaya, Cengiz ⁱ   Caksen, Huseyin ^j   Bilguvar, Kaya ^c   Fu, Xiang Dong ^e   Trotta, Christopher R ^k   Gabriel, Stacey ^l   Reis, André ^d   Gunel, Murat ^c   Baas, Frank ^b   Gleeson, Joseph G ^a   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f ISTANBUL UNIVERSITY   (Turkey)

^g IMAGINE INSTITUTE   (France)

^h Diyarbakir Devlet Hastanesi   (Turkey)

ⁱ ISTANBUL UNIVERSITY   (Turkey)

^j NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^k PTC THERAPEUTICS   (United States)

^l MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ENDONUCLEASE; MUTANT PROTEIN; PHOSPHOTRANSFERASE; PROTEIN CLP1; PROTEIN TSEN; TRANSFER RNA; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DEVELOPMENT; CELL SURVIVAL; CEREBELLAR DEVELOPMENT; CLP1 GENE; CONSANGUINITY; CONTROLLED STUDY; FOUNDER EFFECT; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; GERM LINE; HUMAN; HUMAN CELL; NERVE CELL DIFFERENTIATION; NERVE DEGENERATION; NONHUMAN; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; PEDIGREE; PRIORITY JOURNAL; RNA CLEAVAGE; RNA SPLICING; WILD TYPE; ZEBRA FISH;

ANIMALS; BRAIN; CEREBELLUM; CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR; FEMALE; HUMANS; MALE; MICE; MODELS, MOLECULAR; NEURODEGENERATIVE DISEASES; NUCLEAR PROTEINS; PEDIGREE; PHOSPHOTRANSFERASES; RNA SPLICING; RNA, TRANSFER; SACCHAROMYCES CEREVISIAE; TRANSCRIPTION FACTORS; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84899581919     PISSN: 00928674     EISSN: 10974172     Source Type: Journal    
DOI: 10.1016/j.cell.2014.03.049     Document Type: Article

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