Polycystic kidney disease

PD Wilson - New England Journal of Medicine, 2004 - Mass Medical Soc
Polycystic kidney diseases are inherited renal disorders due mainly to mutations in genes
that regulate the development and function of cells that line renal tubules. This review …

Genetics and pathogenesis of polycystic kidney disease

P Igarashi, S Somlo - Journal of the American Society of …, 2002 - journals.lww.com
Polycystic kidney disease (PKD), a common genetic cause of chronic renal failure in
children and adults, is characterized by the accumulation of fluid-filled cysts in the kidney …

Glucose absorption drives cystogenesis in a human organoid-on-chip model of polycystic kidney disease

SR Li, RE Gulieva, L Helms, NM Cruz, T Vincent… - Nature …, 2022 - nature.com
In polycystic kidney disease (PKD), fluid-filled cysts arise from tubules in kidneys and other
organs. Human kidney organoids can reconstitute PKD cystogenesis in a genetically …

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

M Sun, E Goldin, S Stahl, JL Falardeau… - Human molecular …, 2000 - academic.oup.com
Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized
by severe neurologic and ophthalmologic abnormalities. The MLIV gene, ML4 (MCOLN1) …

The ins and outs of E-cadherin trafficking

DM Bryant, JL Stow - Trends in cell biology, 2004 - cell.com
One way of controlling the activity of E-cadherin–a protein that is, simultaneously, a major
cell-adhesion molecule, a powerful tumour suppressor, a determinant of cell polarity and a …

GABA signaling: a conserved and ubiquitous mechanism

N Bouché, B Lacombe, H Fromm - Trends in cell biology, 2003 - cell.com
In plants, research on γ-aminobutyric acid (GABA) has focused on its role as a metabolite,
mainly in the context of responses to biotic and abiotic stresses. By contrast, studies of GABA …

Traffic jam: a compendium of human diseases that affect intracellular transport processes

M Aridor, LA Hannan - Traffic, 2000 - Wiley Online Library
As sequencing of the human genome nears completion, the genes that cause many human
diseases are being identified and functionally described. This has revealed that many …

Membrane traffic in polarized epithelial cells

KE Mostov, M Verges, Y Altschuler - Current opinion in cell biology, 2000 - Elsevier
Epithelial cells contain apical and basolateral surfaces with distinct compositions. Sorting of
certain proteins to the basolateral surface involves the epithelial-specific μ1b clathrin …

Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus

V Chauvet, X Tian, H Husson… - The Journal of …, 2004 - Am Soc Clin Investig
Polycystin-1, which is encoded by a gene that is mutated in autosomal dominant polycystic
kidney disease (ADPKD), is involved in cell-matrix interactions as well as in ciliary signaling …

Cloning of the gene encoding a novel integral membrane protein, mucolipidin—and identification of the two major founder mutations causing mucolipidosis type IV

MT Bassi, M Manzoni, E Monti, MT Pizzo… - The American Journal of …, 2000 - cell.com
Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder
characterized by severe psychomotor retardation and ophthalmologic abnormalities …