Renal manifestations of genetic mitochondrial disease
JF O'Toole - International journal of nephrology and renovascular …, 2014 - Taylor & Francis
Mitochondrial diseases can be related to mutations in either the nuclear or mitochondrial
genome. Childhood presentations are commonly associated with renal tubular dysfunction, but …
genome. Childhood presentations are commonly associated with renal tubular dysfunction, but …
Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project
An important need exists to better understand and stratify kidney disease according to its
underlying pathophysiology in order to develop more precise and effective therapeutic agents. …
underlying pathophysiology in order to develop more precise and effective therapeutic agents. …
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
The molecular basis of nephronophthisis 1 , the most frequent genetic cause of renal failure
in children and young adults, and its association with retinal degeneration and cerebellar …
in children and young adults, and its association with retinal degeneration and cerebellar …
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, leads to chronic
renal failure in children. The genes mutated in NPHP1 and NPHP4 have been identified, and …
renal failure in children. The genes mutated in NPHP1 and NPHP4 have been identified, and …
[HTML][HTML] Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
…, P Kulkarni, FR Garcia-Gonzalo, AD Seol, JF O'Toole… - Cell, 2011 - cell.com
Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are
autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and …
autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and …
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
…, TD Bunney, M Katan, J Liu, M Attanasio, JF O'toole… - Nature …, 2006 - nature.com
Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema
and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional …
and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional …
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
…, J Hellemans, R Sudbrak, S Fan, U Muerb, JF O'Toole… - Nature …, 2005 - nature.com
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in
children 1 , 2 , 3 . Identification of four genes mutated in NPHP subtypes 1–4 (refs. 4 – 9 ) has …
children 1 , 2 , 3 . Identification of four genes mutated in NPHP subtypes 1–4 (refs. 4 – 9 ) has …
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 …
…, EA Otto, M Attanasio, JF O'Toole… - Human molecular …, 2006 - academic.oup.com
Centrosome- and cilia-associated proteins play crucial roles in establishing polarity and
regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional …
regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional …
[HTML][HTML] Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
…, S Janssen, SJ Allen, S Natarajan, JF O'Toole… - Cell, 2012 - cell.com
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …
The cell biology of APOL1
JF O'Toole, LA Bruggeman, S Madhavan… - Seminars in nephrology, 2017 - Elsevier
The association of variants in the APOL1 gene, which encodes apolipoprotein L1 (APOL1),
with progressive nondiabetic kidney diseases in African Americans has prompted intense …
with progressive nondiabetic kidney diseases in African Americans has prompted intense …