AAV ‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts

Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells

(2020) Verena Janes et al.   Cells

A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT ‐null rat pups

(2020) Shauna A. Rasmussen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Current Clinical Applications of In Vivo Gene Therapy with AAVs

(2020) Jerry R. Mendell et al.   MOLECULAR THERAPY

Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia

(2019) Bijina Balakrishnan et al.   MOLECULAR THERAPY

Gene Therapy in Retinal Dystrophies

(2019) Ziccardi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A galactose‐1‐phosphate uridylyltransferase‐null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue‐specific and longitudinal differences in galactose metabolism

(2019) Shauna A. Rasmussen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hereditary galactosemia

(2018) Didem Demirbas et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Emerging Issues in AAV-Mediated In Vivo Gene Therapy

(2018) Pasqualina Colella et al.   Molecular Therapy-Methods & Clinical Development

Myeloid-Specific Deletion of Epsins 1 and 2 Reduces Atherosclerosis by Preventing LRP-1 Downregulation

(2018) Megan L Brophy et al.   CIRCULATION RESEARCH

Classical Galactosemia: Insight into Molecular Pathomechanisms by Differential Membrane Proteomics of Fibroblasts under Galactose Stress

(2017) Simon Staubach et al.   JOURNAL OF PROTEOME RESEARCH

Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts

(2016) Bijina Balakrishnan et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2016) Thomas J. McCorvie et al.   HUMAN MOLECULAR GENETICS

Downregulation of Insulin-Like Growth Factor-1 via Nitric Oxide Production in a Hypergalactosemic Model of Neonate Skin Fibroblast Cultures

(2016) Gursev S. Dhaunsi et al.   Neonatology

Epsin is required for Dishevelled stability and Wnt signalling activation in colon cancer development

(2015) Baojun Chang et al.   Nature Communications

Physiological ER Stress Mediates the Differentiation of Fibroblasts

(2015) Shinsuke Matsuzaki et al.   PLoS One

Novel Markers to Delineate Murine M1 and M2 Macrophages

(2015) Kyle A. Jablonski et al.   PLoS One

Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model

(2014) Manshu Tang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Transforming Growth Factor-β Signaling Participates in the Maintenance of the Primordial Follicle Pool in the Mouse Ovary

(2014) Zheng-Pin Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic defects of ovarian TGF-β-like factors and premature ovarian failure

(2014) L. Persani et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

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

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

The unfolded protein response has a protective role in yeast models of classic galactosemia

(2013) E. A. De-Souza et al.   Disease Models & Mechanisms

Biodistribution of AAV8 Vectors Expressing Human Low-Density Lipoprotein Receptor in a Mouse Model of Homozygous Familial Hypercholesterolemia

(2013) Shu-Jen Chen et al.   Human Gene Therapy Clinical Development

TGF-β sensitivity is determined by N-linked glycosylation of the type II TGF-β receptor

(2012) Young-Woong Kim et al.   BIOCHEMICAL JOURNAL

Endothelial epsin deficiency decreases tumor growth by enhancing VEGF signaling

(2012) Satish Pasula et al.   JOURNAL OF CLINICAL INVESTIGATION

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia

(2012) Ying Liu et al.   MOLECULAR GENETICS AND METABOLISM

Regulation of the ovarian reserve by members of the transforming growth factor beta family

(2012) Stephanie A. Pangas   MOLECULAR REPRODUCTION AND DEVELOPMENT

Response of Fibroblasts to Transforming Growth Factor-β1 on Two-Dimensional and in Three-Dimensional Hyaluronan Hydrogels

(2012) Xia Chen et al.   TISSUE ENGINEERING PART A

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

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

Galactosemia, a Single Gene Disorder With Epigenetic Consequences

(2010) David J Coman et al.   PEDIATRIC RESEARCH

Role of the Unfolded Protein Response Regulator GRP78/BiP in Development, Cancer, and Neurological Disorders

(2009) Miao Wang et al.   ANTIOXIDANTS & REDOX SIGNALING