2013
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. 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 2013, 110: 3489-3494. PMID: 23359680, PMCID: PMC3587195, DOI: 10.1073/pnas.1222732110.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge of OnsetAmino Acid SequenceBase SequenceChild, PreschoolExomeFemaleGenes, RecessiveHomozygoteHumansHydrolysisMaleModels, MolecularMolecular Sequence DataMutation, MissenseNerve DegenerationNeuronsPedigreeProtein BindingSequence Analysis, DNASubstrate SpecificitySyndromeThermodynamicsUbiquitinUbiquitin ThiolesteraseConceptsUbiquitin C-terminal hydrolase L1Upper motor neuron dysfunctionMotor neuron dysfunctionProgressive neurodegenerative syndromeEarly-onset progressive neurodegenerationChildhood-onset blindnessWhole-exome sequencingNeuron dysfunctionHomozygous missense mutationIndex caseNervous systemProgressive neurodegenerationNeurodegenerative syndromeCerebellar ataxiaHydrolase activityNear complete lossComplete lossAffected individualsConsanguineous unionsMissense mutationsRecessive lossHomozygosity mappingProper positioningReduced affinitySpasticity
1992
A cDNA clone encoding the ADP/ATP translocase of Drosophila melanogaster shows a high degree of similarity with the mammalian ADP/ATP translocases
Louvi A, Tsitilou S. A cDNA clone encoding the ADP/ATP translocase of Drosophila melanogaster shows a high degree of similarity with the mammalian ADP/ATP translocases. Journal Of Molecular Evolution 1992, 35: 44-50. PMID: 1387687, DOI: 10.1007/bf00160259.Peer-Reviewed Original ResearchConceptsADP/ATP translocaseADP/ATP translocasesATP translocaseDrosophila melanogasterSingle open reading frameD. melanogaster genomeComplementary DNA cloneOpen reading frameTransfer hybridization experimentsMelanogaster genomeD. melanogasterDNA clonesCDNA clonesReading frameX chromosomeExtensive similarityHybridization experimentsMelanogasterSequence analysisTranslocaseAmino acidsTranslocasesSitu hybridizationChromosomesPolypeptide