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
2008
Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury
Akdemir O, Uçankale M, Karaoğlan A, Barut Ş, Sağmanligil A, Bilguvar K, Çirakoğlu B, Şahan E, Çolak A. Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury. Journal Of Clinical Neuroscience 2008, 15: 1130-1136. PMID: 18656362, DOI: 10.1016/j.jocn.2007.08.011.Peer-Reviewed Original ResearchConceptsSpinal cord injuryGroup 3 ratsCord injuryRat spinal cord injury modelGrading scaleRat spinal cord injurySpinal cord injury modelApoptotic cell deathSpinal cord traumaGroup 2 ratsFeasible therapeutic strategySpinal cord tissueWistar albino ratsNecrosis 24 hCell deathTarlov scoreModerate traumaCord traumaNeuroprotective effectsFunctional recoveryFunctional outcomeLimb functionNeurological performanceWidespread edemaInjury model