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
2010
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics 2010, 11: 319-325. PMID: 20082205, DOI: 10.1007/s10048-009-0232-y.Peer-Reviewed Original ResearchConceptsCerebellar hypoplasiaMajority of patientsLow-density lipoprotein receptorConstellation of findingsNon-progressive cerebellar ataxiaDensity lipoprotein receptorAutosomal recessive patternHomozygous deletionNeurological sequelaePontocerebellar atrophyDisequilibrium syndromeTurkish familyCerebellar atrophyNovel homozygous deletionLipoprotein receptorCerebellar ataxiaHypoplasiaMotor developmentMotor disabilityTurkish siblingsRecessive patternVLDLR geneCongenital ataxiaHeterogeneous groupSingle nucleotide polymorphisms