Submitted references Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Sakakibara N, Ijuin T, Horinouchi T, Yamamura T, Nagano C, Okada E, Ishiko S, Aoto Y, Rossanti R, Ninchoji T, Awano H, Nagase H, Minamikawa S, Tanaka R, Matsuyama T, Nagatani K, Kamei K, Jinnouchi K, Ohtsuka Y, Oka M, Araki Y, Tanaka T, Harada MS, Igarashi T, Kitahara H, Morisada N, Nakamura SI, Okada T, Iijima K, Nozu K
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2022 Jan 25;37(2):262-270
Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.
Zhang Y, Deng L, Chen X, Hu Y, Chen Y, Chen K, Zhou J
BMC medical genomics 2021 Sep 6;14(1):219
Rab35 and glucocorticoids regulate APP and BACE1 trafficking to modulate Aβ production.
Zhuravleva V, Vaz-Silva J, Zhu M, Gomes P, Silva JM, Sousa N, Sotiropoulos I, Waites CL
Cell death & disease 2021 Dec 8;12(12):1137
Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.
Liu H, Barnes J, Pedrosa E, Herman NS, Salas F, Wang P, Zheng D, Lachman HM
Journal of neurodevelopmental disorders 2020 May 11;12(1):14
Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.
Barnes J, Salas F, Mokhtari R, Dolstra H, Pedrosa E, Lachman HM
Molecular autism 2018;9:44
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