Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 51, 2014, Pages 18285-18290

  Unal Gulsuner, Hilal ^a,b   Gulsuner, Suleyman ^b   Mercan, Fatma Nazli ^c   Onat, Onur Emre ^a   Walsh, Tom ^b   Shahin, Hashem ^d   Lee, Ming K ^b   Dogu, Okan ^e   Kansu, Tulay ^f   Topaloglu, Haluk ^f   Elibol, Bulent ^f   Akbostanci, Cenk ^c   King, Mary Claire ^b   Ozcelik, Tayfun ^a   Tekinay, Ayse B ^a  

^a BILKENT UNIVERSITY   (Turkey)

^b UNIVERSITY OF WASHINGTON   (United States)

^c ANKARA UNIVERSITY   (Turkey)

^d BETHLEHEM UNIVERSITY   (Palestine)

^e MERSIN UNIVERSITY   (Turkey)

^f HACETTEPE UNIVERSITY   (Turkey)

Author keywords

DNA sequencing; Gene identification; Mitochondrial dysfunction; Mutation; Neurodegenerative disease

Indexed keywords

GENOMIC DNA; SERINE PROTEINASE OMI; MITOCHONDRIAL PROTEIN; SERINE PROTEINASE;

ADULT; ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ESSENTIAL TREMOR; EXOME; GENE; GENE FREQUENCY; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HTRA2 GENE; HUMAN; MIDDLE AGED; MISSENSE MUTATION; MITOCHONDRION; MOTONEURON; MOUSE; MOUSE MUTANT; NONHUMAN; ONSET AGE; PARKINSON DISEASE; PEDIGREE ANALYSIS; POPULATION DYNAMICS; RELATIVE; SEQUENCE ANALYSIS; ADOLESCENT; AGED; ENZYMOLOGY; FEMALE; GENETICS; MALE; PEDIGREE; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; ESSENTIAL TREMOR; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; PARKINSON DISEASE; PEDIGREE; SERINE ENDOPEPTIDASES; YOUNG ADULT;

EID: 84919898161     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1419581111     Document Type: Article

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