Results 11 to 20 of about 3,704 (134)

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

Molecular Genetics and Metabolism Reports, 2015
Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including ...
Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni, Stefano Quinzani, Michele Traversa, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi   +8 more
doaj   +4 more sources

Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency. [PDF]

J Inherit Metab Dis, 2017
AbstractDespite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose‐1 phosphate uridylyltransferase (GALT)‐deficient mouse model revealed reduced fertility and growth
Chen W, Caston R, Balakrishnan B, Siddiqi A, Parmar K, Tang M, Feng M, Lai K.   +7 more
europepmc   +4 more sources

Ovarian function in girls and women with GALT-deficiency galactosemia. [PDF]

J Inherit Metab Dis, 2011
AbstractPrimary or premature ovarian insufficiency (POI) is the most common long‐term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose.
Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E.   +5 more
europepmc   +6 more sources

The 1‐¹³C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes [PDF]

Journal of Inherited Metabolic Disease, 2020
AbstractClassical galactosemia (CG) patients frequently develop long‐term complications despite early dietary treatment. The highly variable clinical outcome is poorly understood and a lack of prognostic biomarkers hampers individual prognostication and treatment.
Mendy M. Welsink‐Karssies, Dewi van Harskamp, Sacha Ferdinandusse, Carla E. M. Hollak, Hidde H. Huidekoper, Mirian C. H. Janssen, E. Marleen Kemper, Janneke G. Langendonk, M. Estela Rubio‐Gozalbo, Maaike C. de Vries, Frits A. Wijburg, Henk Schierbeek, Annet M. Bosch   +12 more
openaire   +2 more sources

GALT Enzyme Deficiency Identification in Newborns in Azerbaijan

Bulletin of Science and Practice, 2022
For the first time in Baku, Azerbaijan Republic in maternity houses by means of immunoenzyme analysis the genetic screening for galactosemia inherited metabolism disorder was carried out, and 3 newborns with GALT gene deficiency for were identified.
openaire   +1 more source

Shift of graft-versus-host-disease target organ tropism by dietary vitamin A. [PDF]

PLoS ONE, 2012
Gut-homing of donor T cells is causative for the development of intestinal GvHD in recipients of allogeneic hematopoietic stem cell transplantation (HSCT).
Christian Koenecke, Immo Prinz, Anja Bubke, Alina Schreder, Chun-Wei Lee, Oliver Pabst, Reinhold Förster   +6 more
doaj   +1 more source

Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

JIMD Reports, 2021
Background Classical galactosemia (CG) (OMIM #230400) is a rare disorder of carbohydrate metabolism, due to deficiency of galactose‐1‐phosphate uridyltransferase (EC 2.7.7.12).
Eileen P. Treacy, Sebastian Vencken, Annet M. Bosch, Matthias Gautschi, Estela Rubio‐Gozalbo, Charlotte Dawson, Darragh Nerney, Hugh Owen Colhoun, Loai Shakerdi, Gregory M. Pastores, Roisin O'Flaherty, Radka Saldova   +11 more
doaj   +1 more source

Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation

Disease Models & Mechanisms, 2016
Classic galactosemia (CG) is a potentially lethal inborn error of metabolism that results from the profound loss of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme in the Leloir pathway of galactose metabolism.
Jennifer M. I. Daenzer, Patricia P. Jumbo-Lucioni, Marquise L. Hopson, Kerry R. Garza, Emily L. Ryan, Judith L. Fridovich-Keil   +5 more
doaj   +1 more source

Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4′-epimerase (GALE) [PDF]

Molecular Genetics and Metabolism, 2008
Galactose is metabolized in humans and other species by the three-enzyme Leloir pathway comprised of galactokinase (GALK), galactose 1-P uridylyltransferase (GALT), and UDP-galactose 4'-epimerase (GALE). Impairment of GALT or GALE in humans results in the potentially lethal disorder galactosemia, and loss of either enzyme in yeast results in galactose ...
Jane Odhiambo, Mumma, Juliet S, Chhay, Kerry L, Ross, Jana S, Eaton, Karen A, Newell-Litwa, Judith L, Fridovich-Keil   +5 more
openaire   +2 more sources

Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia

Disease Models & Mechanisms, 2012
SUMMARY Despite neonatal diagnosis and life-long dietary restriction of galactose, many patients with classic galactosemia grow to experience significant long-term complications.
Emily L. Ryan, Brian DuBoff, Mel B. Feany, Judith L. Fridovich-Keil   +3 more
doaj   +1 more source