(Q45860707)

17 December 2017

title

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis (English)

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17 December 2017

Corinne Antignac

4

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author name string

Claudia Raggi

1

1 reference

17 December 2017

Alessandro Luciani

2

1 reference

17 December 2017

Nathalie Nevo

3

1 reference

17 December 2017

Sara Terryn

5

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17 December 2017

Olivier Devuyst

6

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17 December 2017

publication date

6 December 2013

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17 December 2017

published in

Human Molecular Genetics

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17 December 2017

volume

23

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17 December 2017

issue

9

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17 December 2017

page(s)

2266-2278

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17 December 2017

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

The pathogenesis of cystinosis: mechanisms beyond cystine accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Cysteamine therapy: a treatment for cystinosis, not a cure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Renal phenotype of the cystinosis mouse model is dependent upon genetic background

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

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%2FHMG%2FDDT617

The soluble intracellular domain of megalin does not affect renal proximal tubular function in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

ZONAB promotes proliferation and represses differentiation of proximal tubule epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Receptor-mediated endocytosis in renal proximal tubule

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Genetics of hypercalciuric stone forming diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

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%2FHMG%2FDDT617

Single photon emission-computed tomography (SPECT) for functional investigation of the proximal tubule in conscious mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

The transcription factor HNF1α regulates expression of chloride-proton exchanger ClC-5 in the renal proximal tubule

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Regulation of dedifferentiation and redifferentiation in renal proximal tubular cells by the epidermal growth factor receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

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%2FHMG%2FDDT617

The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

Interplay of LRRK2 with chaperone-mediated autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT617

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT617

1 reference

17 December 2017

1 reference

17 December 2017