Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

(2016) Ashwini Maratha et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Compromised Catalysis and Potential Folding Defects inin VitroStudies of Missense Mutants Associated with Hereditary Phosphoglucomutase 1 Deficiency

(2014) Yingying Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I

(2014) Noel Mesa-Torres et al.   PLoS One

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

(2014) Ana I. Coelho et al.   Molecular Genetics & Genomic Medicine

Manganese-Based Superoxide Dismutase Mimics Modify Both Acute and Long-Term Outcome Severity in a Drosophila melanogaster Model of Classic Galactosemia

(2013) Patricia P. Jumbo-Lucioni et al.   ANTIOXIDANTS & REDOX SIGNALING

Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia

(2013) Thomas J. McCorvie et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Cofactors and Metabolites as Protein Folding Helpers in Metabolic Diseases

(2013) Joao V. Rodrigues et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

N-Glycan Abnormalities in Children with Galactosemia

(2013) Karen P. Coss et al.   JOURNAL OF PROTEOME RESEARCH

Zinc homeostasis and neurodegenerative disorders

(2013) Bernadeta Szewczyk   Frontiers in Aging Neuroscience

Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene

(2012) Manshu Tang et al.   HUMAN MUTATION

New developments in theATSASprogram package for small-angle scattering data analysis

(2012) Maxim V. Petoukhov et al.   JOURNAL OF APPLIED CRYSTALLOGRAPHY

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations

(2012) Audrey Boutron et al.   MOLECULAR GENETICS AND METABOLISM

Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade

(2012) C. E. Bulawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Structural and molecular biology of type I galactosemia: Disease-associated mutations

(2011) Thomas J. McCorvie et al.   IUBMB LIFE

The adult galactosemic phenotype

(2011) Susan E. Waisbren et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Differential Glycomics of Epithelial Membrane Glycoproteins from Urinary Exovesicles Reveals Shifts toward Complex-Type N-Glycosylation in Classical Galactosemia

(2011) Simon Staubach et al.   JOURNAL OF PROTEOME RESEARCH

Innovative therapy for Classic Galactosemia — Tale of two HTS

(2011) M. Tang et al.   MOLECULAR GENETICS AND METABOLISM

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia

(2011) K.P. Coss et al.   MOLECULAR GENETICS AND METABOLISM

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism

(2010) Ania C. Muntau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The missing Zinc: p53 misfolding and cancer

(2010) Stewart N. Loh   Metallomics

Molecular aspects of human cellular zinc homeostasis: redox control of zinc potentials and zinc signals

(2009) Wolfgang Maret   BIOMETALS

Galactose toxicity in animals

(2009) Kent Lai et al.   IUBMB LIFE

Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach

(2009) A. Facchiano et al.   PROTEIN ENGINEERING DESIGN & SELECTION

GALT Protein Database, a Bioinformatics Resource for the Management and Analysis of Structural Features of a Galactosemia-related Protein and Its Mutants

(2009) Antonio d’Acierno et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability

(2008) Søren W. Gersting et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

(2008) Angel L. Pey et al.   JOURNAL OF CLINICAL INVESTIGATION

A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family

(2008) J. S. Chhay et al.   JOURNAL OF INHERITED METABOLIC DISEASE