Sakakibara, Nana Nagano, China Ishiko, Shinya Horinouchi, Tomoko Yamamura, Tomohiko Minamikawa, Shogo Shima, Yuko Nakanishi, Koichi Ishimori, Shingo Morisada, Naoya
...
Published in
Pediatric nephrology (Berlin, Germany)
Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing. We re...
Perdomo-Ramirez, Ana Antón-Gamero, Montserrat Rizzo, Daniela Sakaguchi Trindade, Amelia Ramos-Trujillo, Elena Claverie-Martin, Felix
Published in
Intractable & rare diseases research
The oculocerebrorenal syndrome of Lowe is a rare X-linked disease characterized by congenital cataracts, proximal renal tubulopathy, muscular hypotonia and mental impairment. This disease is caused by mutations in the OCRL gene encoding membrane bound inositol polyphosphate 5-phosphatase OCRL1. Here, we examined the OCRL gene of two Lowe syndrome p...
Ates, Kristin M. Wang, Tong Moreland, Trevor Veeranan-Karmegam, Rajalakshmi Ma, Manxiu Jeter, Chelsi Anand, Priya Wenzel, Wolfgang Kim, Hyung-Goo Wolfe, Lynne A.
...
Published in
Disease Models & Mechanisms
Editor's choice: The functions of two endocytic adaptor proteins, PHETA1/2, are determined using zebrafish mutants and a potentially disease-causing variant of human PHETA1. Findings suggest essential roles in craniofacial and renal development.
Liu, Hequn Barnes, Jesse Pedrosa, Erika Herman, Nathaniel S. Salas, Franklin Wang, Ping Zheng, Deyou Lachman, Herbert M.
Published in
Journal of Neurodevelopmental Disorders
BackgroundLowe syndrome (LS) is caused by loss-of-function mutations in the X-linked gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role in endosome recycling, clathrin-coated pit formation, and actin polymerization. It is characterized by congenital cataracts, intellectual and developmental disability, and rena...
Preston, Rebecca Naylor, Richard W Stewart, Graham Bierzynska, Agnieszka Saleem, Moin A Lowe, Martin Lennon, Rachel
Published in
Pediatric nephrology (Berlin, Germany)
Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can manifest as Fanconi syndrome in the most extreme cases. Here, we report a 12-year-old male with nephrotic-range pro...
Gliozzi, Megan L. Espiritu, Eugenel B. Shipman, Katherine E. Rbaibi, Youssef Long, Kimberly R. Roy, Nairita Duncan, Andrew W. Lazzara, Matthew J. Hukriede, Neil A. Baty, Catherine J.
...
Published in
Journal of the American Society of Nephrology : JASN
Background Lowe syndrome (LS) is an X-linked recessive disorder caused by mutations in OCRL , which encodes the enzyme OCRL. Symptoms of LS include proximal tubule (PT) dysfunction typically characterized by low molecular weight proteinuria, renal tubular acidosis (RTA), aminoaciduria, and hypercalciuria. How mutant OCRL causes these symptoms isn’t...
Zhou, Feng-Qi Wang, Qi-Wei Liu, Zhen-Zhen Zhang, Xu-Lin Wang, Dong-Ni Dongye, Mei-Mei Lin, Hao-Tian Chen, Wei-Rong
Published in
International Journal of Ophthalmology
AIM To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelated healthy Chinese subjects. Direct sequencing was pe...
Carim, Sabrya C Ben El Kadhi, Khaled Yan, Guanhua Sweeney, Sean T Hickson, Gilles R Carréno, Sébastien Lowe, Martin
Published in
Current biology : CB
During cytokinesis, an actomyosin contractile ring drives the separation of the two daughter cells. A key molecule in this process is the inositol lipid PtdIns(4,5)P2, which recruits numerous factors to the equatorial region for contractile ring assembly. Despite the importance of PtdIns(4,5)P2 in cytokinesis, the regulation of this lipid in cell d...
Barnes, Jesse Salas, Franklin Mokhtari, Ryan Dolstra, Hedwig Pedrosa, Erika Lachman, Herbert M.
Published in
Molecular Autism
BackgroundLowe syndrome (LS) is a rare genetic disorder caused by loss of function mutations in the X-linked gene, OCRL, which codes for inositol polyphosphate 5-phosphatase. LS is characterized by the triad of congenital cataracts, neurodevelopmental impairment (primarily intellectual and developmental disabilities [IDD]), and renal proximal tubul...
Welin, Amanda Weber, Stephen Hilbi, Hubert
Published in
Applied and environmental microbiology
The ubiquitous environmental bacterium Legionella pneumophila survives and replicates within amoebae and human macrophages by forming a Legionella-containing vacuole (LCV). In an intricate process governed by the bacterial Icm/Dot type IV secretion system and a plethora of effector proteins, the nascent LCV interferes with a number of intracellular...
