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Cryo‐EM structure of native human uromodulin, a zona pellucida module polymer

The EMBO journal, 2020-12, Vol.39 (24), p.e106807-n/a

2020

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Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

Human molecular genetics, 2003-12, Vol.12 (24), p.3369-3384

2003

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Neurologic phenotypes associated with acanthocytosis

Neurology, 2007-01, Vol.68 (2), p.92-98

2007

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6C.06: GENES INVOLVED IN BLOOD PRESSURE RESPONSE TO ACUTE AND CHRONIC SALT MODIFICATIONS: IDENTIFICATION OF A NEW PATHWAY

Journal of hypertension, 2015-06, Vol.33 Suppl 1 - ESH 2015 Abstract Book (Supplement 1), p.e80-e81

2015

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A structured interdomain linker directs self-polymerization of human uromodulin

Proceedings of the National Academy of Sciences - PNAS, 2016-02, Vol.113 (6), p.1552-1557

2016

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The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

eLife, 2015-12, Vol.4, p.e08887

2015

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Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Scientific reports, 2019-08, Vol.9 (1), p.11601-11, Article 11601

2019

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Protein trafficking defects in inherited kidney diseases

Nephrology, dialysis, transplantation, 2014-09, Vol.29 Suppl 4 (suppl 4), p.iv33-iv44

2014

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Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy

Nephrology, dialysis, transplantation, 2004-12, Vol.19 (12), p.3150-3154

2004

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Clinical features and molecular bases of neuroacanthocytosis

Journal of molecular medicine (Berlin, Germany), 2002-08, Vol.80 (8), p.475-491

2002

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Uromodulin storage diseases: Clinical aspects and mechanisms

American journal of kidney diseases, 2004-12, Vol.44 (6), p.987-999

2004

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A comprehensive, high-resolution genomic transcript map of human skeletal muscle

Genome research, 1998-08, Vol.8 (8), p.817-825

1998

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Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage

Biochemical and biophysical research communications, 2008-06, Vol.370 (3), p.410-413

2008

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Genetics of hypercalciuria and calcium nephrolithiasis: From the rare monogenic to the common polygenic forms

American journal of kidney diseases, 2004-12, Vol.44 (6), p.963-986

2004

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Nature genetics, 2001-06, Vol.28 (2), p.119-120

2001

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Neuroacanthocytosis: new developments in a neglected group of dementing disorders

Journal of the neurological sciences, 2005-03, Vol.229, p.171-186

2005

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McLeod neuroacanthocytosis: Genotype and phenotype

Annals of neurology, 2001-12, Vol.50 (6), p.755-764

2001

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Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity

Neuromuscular disorders : NMD, 2000-10, Vol.10 (7), p.497-502

2000

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Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

European journal of human genetics : EJHG, 2002-11, Vol.10 (11), p.773-781

2002

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EUNEFRON, the European Network for the Study of Orphan Nephropathies

Nephrology, dialysis, transplantation, 2009-07, Vol.24 (7), p.2011-2015

2009

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Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5

Cytogenetic and genome research, 1997-01, Vol.78 (3-4), p.301-303

1997

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Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula

Movement disorders, 2003-04, Vol.18 (4), p.403-407

2003

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Haploinsufficiency of ATP1A2 encoding the Na super(+)/K super(+) pump alpha 2 subunit associated with familial hemiplegic migraine type 2

Nature genetics, 2003-02, Vol.33 (2), p.192-196

2003

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Fine Mapping of Five Human Skeletal Muscle Genes: Alpha-Tropomyosin, Beta-Tropomyosin, Troponin-I Slow-Twitch, Troponin-I Fast-Twitch, and Troponin-C Fast

Biochemical and biophysical research communications, 1997-01, Vol.230 (2), p.347-350

1997

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Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease

Journal of nephrology, 2003-05, Vol.16 (3), p.321-328

2003

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Cryo‐EM structure of native human uromodulin, a zona pellucida module polymer

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

Neurologic phenotypes associated with acanthocytosis

6C.06: GENES INVOLVED IN BLOOD PRESSURE RESPONSE TO ACUTE AND CHRONIC SALT MODIFICATIONS: IDENTIFICATION OF A NEW PATHWAY

A structured interdomain linker directs self-polymerization of human uromodulin

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Protein trafficking defects in inherited kidney diseases

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy

Clinical features and molecular bases of neuroacanthocytosis

Uromodulin storage diseases: Clinical aspects and mechanisms

A comprehensive, high-resolution genomic transcript map of human skeletal muscle

Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage

Genetics of hypercalciuria and calcium nephrolithiasis: From the rare monogenic to the common polygenic forms

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Neuroacanthocytosis: new developments in a neglected group of dementing disorders

McLeod neuroacanthocytosis: Genotype and phenotype

Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

EUNEFRON, the European Network for the Study of Orphan Nephropathies

Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5

Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula

Haploinsufficiency of ATP1A2 encoding the Na super(+)/K super(+) pump alpha 2 subunit associated with familial hemiplegic migraine type 2

Fine Mapping of Five Human Skeletal Muscle Genes: Alpha-Tropomyosin, Beta-Tropomyosin, Troponin-I Slow-Twitch, Troponin-I Fast-Twitch, and Troponin-C Fast

Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease

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