2022
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
Tuysuz B, Alkaya D, Geyik F, Alaylıoğlu M, Kasap B, Kurugoğlu S, Akman Y, Vural M, Bilguvar K. Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. Journal Of Medical Genetics 2022, 60: 819-826. PMID: 36543534, DOI: 10.1136/jmg-2022-108763.Peer-Reviewed Original ResearchConceptsOsteogenesis imperfectaWestern blot analysisPathogenic variantsFrameshift variantSkin fibroblast samplesExpression levelsInsulin-dependent Akt phosphorylationBlot analysisAutosomal recessive osteogenesis imperfectaWhole-exome sequencingMRNA expression levelsType 1 collagenBisphosphonate treatmentRecurrent fracturesClinical evaluationRecessive osteogenesis imperfectaCommon findingReal-time PCRMRNA expressionVertebral changesHeterogeneous groupAkt phosphorylationLong bonesBloodSkin fibroblasts
2014
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. European Journal Of Medical Genetics 2014, 58: 39-43. PMID: 25220016, PMCID: PMC4804755, DOI: 10.1016/j.ejmg.2014.08.008.Peer-Reviewed Original ResearchConceptsN-glycanase 1Proteasome-mediated degradationConserved enzymeFrame-shift mutationApparent intellectual disabilityBase pair deletionNeuromotor impairmentNovel homozygous frame-shift mutationHomozygous frame-shift mutationNeuronal cellsPair deletionAmyotrophic lateral sclerosisIntellectual disabilityMutationsProteinNeurological functionCorneal opacityNeurologic diseaseLateral sclerosisParkinson's diseaseProgressive lossDiseaseCytoplasmImpairmentDeletion