Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Nana SakakibaraTakeshi IjuinTomoko HorinouchiTomohiko YamamuraChina NaganoEri OkadaShinya IshikoYuya AotoRini RossantiTakeshi NinchojiHiroyuki AwanoHiroaki NagaseShogo MinamikawaRyojiro TanakaTakeshi MatsuyamaKoji NagataniKoichi KameiKumiko JinnouchiYasufumi OhtsukaMasafumi OkaYoshinori ArakiToju TanakaMari S HaradaToru IgarashiHikaru KitaharaNaoya MorisadaShun-Ichi NakamuraTaro OkadaKazumoto IijimaKandai NozuPublished in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2021)
We elucidated the molecular mechanism underlying the two different phenotypes in OCRL-related diseases; the functional OCRL isoform translated starting at exon 8 was associated with this mechanism.
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