Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery

Effects on Murine Behavior and Lifespan of Selectively Decreasing Expression of Mutant Huntingtin Allele by Supt4h Knockdown

(2015) Hui-Min Cheng et al.   PLoS Genetics

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

(2014) Rachel Thompson et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

DrugBank 4.0: shedding new light on drug metabolism

(2013) Vivian Law et al.   NUCLEIC ACIDS RESEARCH

ASD v2.0: updated content and novel features focusing on allosteric regulation

(2013) Zhimin Huang et al.   NUCLEIC ACIDS RESEARCH

Orphanet et son réseau : où trouver une information validée sur les maladies rares

(2013) S. Maiella et al.   REVUE NEUROLOGIQUE

Spt4 Is Selectively Required for Transcription of Extended Trinucleotide Repeats

(2012) Chia-Rung Liu et al.   CELL

FGFR3 targeting strategies for achondroplasia

(2012) Melanie B. Laederich et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Database identifies FDA-approved drugs with potential to be repurposed for treatment of orphan diseases

(2011) K. Xu et al.   BRIEFINGS IN BIOINFORMATICS

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

Fusion methodologies for biomedical data

(2011) Georgia Tsiliki et al.   Journal of Proteomics

Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency

(2011) Johannes Häberle   Therapeutics and Clinical Risk Management

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare diseases, orphan drugs and their regulation: questions and misconceptions

(2010) Erik Tambuyzer   NATURE REVIEWS DRUG DISCOVERY

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers

(2009) Mendel Tuchman et al.   PEDIATRIC RESEARCH

Why rare diseases are an important medical and social issue

(2008) Arrigo Schieppati et al.   LANCET

Allosteric regulation and catalysis emerge via a common route

(2008) Nina M Goodey et al.   Nature Chemical Biology