Protein trafficking defects in inherited kidney diseases (Q27012909)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165184%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Luca Rampoldi

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165184%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Anna Creatore

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165184%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

language of work or name

1 reference

September 2014

1 reference

Nephrology Dialysis Transplantation

published in

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165184%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

29 Suppl 4

2 references

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6 June 2020

page(s)

iv33-44

2 references

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6 June 2020

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Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel

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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

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Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus

21 January 2018

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Congenital nephrogenic diabetes insipidus: the current state of affairs

21 January 2018

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Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus

21 January 2018

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Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism

21 January 2018

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Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus

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Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus

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Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists

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A transmembrane intracellular estrogen receptor mediates rapid cell signaling

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Signalling complexes associated with adenylyl cyclase II are assembled during their biosynthesis.

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Vasopressin-independent targeting of aquaporin-2 by selective E-prostanoid receptor agonists alleviates nephrogenic diabetes insipidus.

21 January 2018

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A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus

21 January 2018

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Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus

21 January 2018

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Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus

21 January 2018

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p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

21 January 2018

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An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus

21 January 2018

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A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

21 January 2018

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Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation

21 January 2018

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Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation

21 January 2018

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Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

21 January 2018

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The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.

21 January 2018

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A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

21 January 2018

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Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.

21 January 2018

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Nephrin missense mutations: induction of endoplasmic reticulum stress and cell surface rescue by reduction in chaperone interactions

21 January 2018

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Evidence for activation of the unfolded protein response in collagen IV nephropathies

21 January 2018

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Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes

21 January 2018

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Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

21 January 2018

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Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

21 January 2018

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Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.

21 January 2018

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Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele

21 January 2018

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The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I

21 January 2018

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A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria

21 January 2018

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Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

21 January 2018

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Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

21 January 2018

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Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

21 January 2018

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Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

21 January 2018

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Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells

21 January 2018

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Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger

21 January 2018

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Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis

21 January 2018

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Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.

21 January 2018

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Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.

21 January 2018

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Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions

21 January 2018

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Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells

21 January 2018

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A common molecular basis for three inherited kidney stone diseases

21 January 2018

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Dent Disease with mutations in OCRL1

21 January 2018

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Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease

21 January 2018

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21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Dent’s disease: clinical features and molecular basis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Chloride channel (Clc)-5 is necessary for exocytic trafficking of Na+/H+ exchanger 3 (NHE3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

A primary culture of mouse proximal tubular cells, established on collagen-coated membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Liddle syndrome: an autosomal dominant form of human hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

ENaC and its regulatory proteins as drug targets for blood pressure control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Ubiquitylation and control of renal Na+ balance and blood pressure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Human hypertension caused by mutations in WNK kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Chemical and biological approaches for adapting proteostasis to ameliorate protein misfolding and aggregation diseases: progress and prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

Chemical and biological approaches synergize to ameliorate protein-folding diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU231

21 January 2018

Identifiers

DOI

10.1093/NDT/GFU231

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165184%20AND%20SRC:MED&resulttype=core&format=json

release_nted53jcwngptjw5e4dzgz2eau

6 June 2020

Fatcat ID

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165184%20AND%20SRC:MED&resulttype=core&format=json