PMC Links for GEO Profiles (Select 117228714) - PMC

Select item 89304721.

Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia

Jennifer M. I. Daenzer, Shauna A. Rasmussen, Sneh Patel, James McKenna, III, Judith L. Fridovich‐Keil

J Inherit Metab Dis. 2022 Mar; 45(2): 203–214. Published online 2022 Jan 14. doi: 10.1002/jimd.12471

PMCID:: PMC8930472

Abstract Article PDF–2.3M

Select item 78557322.

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

Shauna A. Rasmussen, Jennifer M.I. Daenzer, Judith L. Fridovich-Keil

J Inherit Metab Dis. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: J Inherit Metab Dis. 2021 Jan; 44(1): 272–281. Published online 2020 Sep 17. doi: 10.1002/jimd.12311

PMCID:: PMC7855732

Abstract Article PDF–473K

Select item 73185683.

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

Shauna A. Rasmussen, Jennifer M. I. Daenzer, Jessica A. MacWilliams, S. Taylor Head, Martine B. Williams, Aron M. Geurts, Jason P. Schroeder, David Weinshenker, Judith L. Fridovich‐Keil

J Inherit Metab Dis. 2020 May; 43(3): 518–528. Published online 2019 Dec 29. doi: 10.1002/jimd.12205

PMCID:: PMC7318568

Abstract Article PDF–1.5M

Select item 50810554.

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

Thomas J. McCorvie, Jolanta Kopec, Angel L. Pey, Fiona Fitzpatrick, Dipali Patel, Rod Chalk, Leela Shrestha, Wyatt W. Yue

Hum Mol Genet. 2016 Jun 1; 25(11): 2234–2244. Published online 2016 Mar 22. doi: 10.1093/hmg/ddw091

PMCID:: PMC5081055

Abstract Article PDF–1.5M

Select item 31780595.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 16831906.

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

J K Reichardt, S Packman, S L Woo

Am J Hum Genet. 1991 Oct; 49(4): 860–867.

PMCID:: PMC1683190

Summary Page Browse PDF–1.2M

Select item 1392417.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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