List of works by Luca Rampoldi

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

scientific article published in June 2001

A novel truncated form of eNOS associates with altered vascular function

scientific article published on 03 December 2013

A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing.

scientific article published on 26 July 2013

A structured interdomain linker directs self-polymerization of human uromodulin

scientific article

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

scientific article published on 14 May 2010

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

article

Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly

scientific article

Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing

scientific article published on 31 May 2012

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

scientific article published on 12 August 2019

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report

scientific article

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

scientific article

Clinical features and molecular bases of neuroacanthocytosis

scientific article (publication date: August 2002)

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

scientific article

Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis

scientific article

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

scientific article published on 16 November 2020

Defective intracellular trafficking of uromodulin mutant isoforms

scientific article published on 30 September 2006

Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes.

scientific article

EUNEFRON, the European Network for the Study of Orphan Nephropathies

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

scientific article

Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.

scientific article

Fine mapping of five human skeletal muscle genes: alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast

scientific article

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

scientific article

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

scientific article

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

scientific article

Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis

scientific article published on 23 August 2019

Identification of genetic factors for Alachlor tolerance in maize by molecular markers analysis

scientific article published on 01 July 1996

Immature Renal Structures Associated With a Novel UMOD Sequence Variant

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

scientific article

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.

scientific article

Neuroacanthocytosis: new developments in a neglected group of dementing disorders

scientific article

Neurologic phenotypes associated with acanthocytosis.

scientific article published on January 2007

Protein trafficking defects in inherited kidney diseases

scientific article

Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1)

scientific article published on 05 September 2018

The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia

scientific article published on 01 October 2014

The preliminary transcript map of a human skeletal muscle.

scientific article published on September 1997

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

scientific article published on 08 June 2011

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

scientific article published on 17 December 2015

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

scientific article published on 11 January 2012

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

scientific article

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

scientific article

Uromodulin storage diseases: clinical aspects and mechanisms

scientific article

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