Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

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

Volumn 110, Issue 9, 2013, Pages 3489-3494

  Bilguvar, Kaya ^a   Tyagi, Navneet K ^a,b   Ozkara, Cigdem ^c   Tuysuz, Beyhan ^c   Bakircioglu, Mehmet ^a   Choi, Murim ^a,b   Delil, Sakir ^c   Caglayan, Ahmet O ^a   Baranoski, Jacob F ^a   Erturk, Ozdem ^c   Yalcinkaya, Cengiz ^c   Karacorlu, Murat ^d   Dincer, Alp ^e   Johnson, Michele H ^a   Mane, Shrikant ^a   Chandra, Sreeganga S ^a   Louvi, Angeliki ^a   Boggon, Titus J ^a   Lifton, Richard P ^a,b   Horwich, Arthur L ^a,b   Gunel, Murat ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c ISTANBUL UNIVERSITY   (Turkey)

^d Istanbul Retina Institute Inc   (Turkey)

^e ACIBADEM UNIVERSITY   (Turkey)

Author keywords

Protein quality control; Recessive inherited neurodegeneration

Indexed keywords

UBIQUITIN C TERMINAL HYDROLASE L1; UBIQUITIN THIOLESTERASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; CASE REPORT; CEREBELLAR ATAXIA; CHILD; CHILDHOOD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DORSAL COLUMN DYSFUCTION; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME BINDING; EXOME; GENE; GENE MAPPING; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; ISOTHERMAL TITRATION CALORIMETRY; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MOTOR NEURON DISEASE; MUTATIONAL ANALYSIS; NERVE DEGENERATION; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; NYSTAGMUS; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SIBLING; SPASTICITY; THERMODYNAMICS; UCHL1 GENE; WILD TYPE;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; EXOME; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; HYDROLYSIS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE DEGENERATION; NEURONS; PEDIGREE; PROTEIN BINDING; SEQUENCE ANALYSIS, DNA; SUBSTRATE SPECIFICITY; SYNDROME; THERMODYNAMICS; UBIQUITIN; UBIQUITIN THIOLESTERASE;

EID: 84874456127     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1222732110     Document Type: Article

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