Early markers of Fabry disease revealed by proteomics

The Identification of New Biomarkers for Identifying and Monitoring Kidney Disease and Their Translation into a Rapid Mass Spectrometry-Based Test: Evidence of Presymptomatic Kidney Disease in Pediatric Fabry and Type-I Diabetic Patients

(2013) Victoria Manwaring et al.   JOURNAL OF PROTEOME RESEARCH

Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings

(2013) Diego Cigna et al.   Molecular BioSystems

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms

(2012) Céline Schaeffer et al.   KIDNEY INTERNATIONAL

AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome

(2012) Massimiliano Gaetani et al.   NUCLEIC ACIDS RESEARCH

Andromeda: A Peptide Search Engine Integrated into the MaxQuant Environment

(2011) Jürgen Cox et al.   JOURNAL OF PROTEOME RESEARCH

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

(2011) Luca Rampoldi et al.   KIDNEY INTERNATIONAL

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy

(2011) Andreas D. Kistler et al.   PLoS One

Uromodulin-Associated Kidney Disease

(2010) Anthony J. Bleyer et al.   NEPHRON CLINICAL PRACTICE

Study of urinary proteomes in Anderson-Fabry disease

(2010) Lucie Vojtová et al.   RENAL FAILURE

Proteomics Analysis of Nucleolar SUMO-1 Target Proteins upon Proteasome Inhibition

(2009) Vittoria Matafora et al.   MOLECULAR & CELLULAR PROTEOMICS

Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography–tandem mass spectrometry in healthy infants from birth to 6months

(2009) Caroline Barr et al.   MOLECULAR GENETICS AND METABOLISM

Universal sample preparation method for proteome analysis

(2009) Jacek R Wiśniewski et al.   NATURE METHODS

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy

(2008) P. Vylet’al et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fabry's disease

(2008) Yuri A Zarate et al.   LANCET

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY