Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria

2p21 Deletions in hypotonia–cystinuria syndrome

(2012) Thomas Eggermann et al.   European Journal of Medical Genetics

Two novel deletions in hypotonia–cystinuria syndrome

(2012) Luc Régal et al.   MOLECULAR GENETICS AND METABOLISM

PREPL, a Prolyl Endopeptidase-Like Enzyme by Name Only? – Lessons from Patients

(2011) Kurt Boonen et al.   CNS & Neurological Disorders-Drug Targets

A Substrate-Free Activity-Based Protein Profiling Screen for the Discovery of Selective PREPL Inhibitors

(2011) Anna Mari Lone et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Disruption of the epigenetic code: An emerging mechanism in mental retardation

(2010) Hans van Bokhoven et al.   NEUROBIOLOGY OF DISEASE

Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin

(2010) Roberta Magnani et al.   Nature Communications

Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair

(2009) Chien-Chang Huang et al.   BMC MOLECULAR BIOLOGY

Multi-System Disorder Syndromes Associated with Cystinuria Type I

(2008) Kevin Martens et al.   CURRENT MOLECULAR MEDICINE

Cystinuria

(2008) Aditya Mattoo et al.   SEMINARS IN NEPHROLOGY