Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia

Francis P. Pankowicz, Mercedes Barzi, Xavier Legras, +11

Nature Communications

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline

Vincent Dion, Yunfu Lin, Leroy Hubert, +2

Human Molecular Genetics

Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1

Leroy Hubert, Yunfu Lin, Vincent Dion, +1

Human Molecular Genetics

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Michael F. Wangler, Leroy Hubert, Taraka Donti, +12

Genetics in Medicine

BioinformaticsMedicineGeneticsMetabolomic MapMetabolomic Profiling +11

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Taraka Donti, Gerarda Cappuccio, Leroy Hubert, +11

Molecular Genetics and Metabolism Reports

GeneticsMetabolomic ProfilingPathologyAdsl GenePhenotypic Spectrum +15

Topoisomerase 1 and Single-Strand Break Repair Modulate Transcription-Induced CAG Repeat Contraction in Human Cells

Leroy Hubert, Yunfu Lin, Vincent Dion, +1

Molecular and Cellular Biology

Molecular BiologyCell CycleCellular PhysiologyCell RegulationHuman Cells +16

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Brian J. Shayota, Taraka Donti, Jing Xiao, +13

Molecular Genetics and Metabolism

Unbiased ApproachInborn ErrorsMetabolic DisorderBiochemistryNatural Sciences +11

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

Marina Kovalenko, Serkan Erdin, Marissa A Andrew, +11

eLife

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights

Gerarda Cappuccio, Taraka Donti, Leroy Hubert, +2

Journal of Inherited Metabolic Disease