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Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

Journal of clinical immunology, 2021-07, Vol.41 (5), p.958-966

2021

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Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

Biochemical journal, 2009-12, Vol.425 (1), p.127-139

2009

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Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

American journal of human genetics, 2007-05, Vol.80 (5), p.931-937

2007

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Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor

Blood, 2020-08, Vol.136 (9), p.1033-1043

2020

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Metabolite damage and its repair or pre-emption

Nature chemical biology, 2013-02, Vol.9 (2), p.72-80

2013

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Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency

Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (4), p.1241-1250

2019

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Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

American journal of human genetics, 2005-02, Vol.76 (2), p.358-360

2005

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NAT6 acetylates the N‐terminus of different forms of actin

The FEBS journal, 2018-09, Vol.285 (17), p.3299-3316

2018

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Increased protein glycation in fructosamine 3-kinase-deficient mice

Biochemical journal, 2006-10, Vol.399 (2), p.257-264

2006

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Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5

Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.759-768

2022

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Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1)

The Journal of biological chemistry, 2010-03, Vol.285 (13), p.9346-9356

2010

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Inborn errors of metabolite repair

Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.14-24

2020

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Phosphoglycolate has profound metabolic effects but most likely no role in a metabolic DNA response in cancer cell lines

Biochemical journal, 2019-02, Vol.476 (4), p.629-643

2019

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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Nature communications, 2016-05, Vol.7 (1), p.11534-11534, Article 11534

2016

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TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

American journal of human genetics, 2012-07, Vol.91 (1), p.15-26

2012

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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

The New England journal of medicine, 2014-02, Vol.370 (6), p.533-542

2014

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Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

Proceedings of the National Academy of Sciences - PNAS, 2013-04, Vol.110 (17), p.6859-6864

2013

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Binding of mannose-binding lectin to fructosamines: a potential link between hyperglycaemia and complement activation in diabetes

Diabetes/metabolism research and reviews, 2010-05, Vol.26 (4), p.254-260

2010

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A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair

PloS one, 2015-03, Vol.10 (3), p.e0119540

2015

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IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

Science (American Association for the Advancement of Science), 2010-10, Vol.330 (6002), p.336-336

2010

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Erythritol feeds the pentose phosphate pathway via three new isomerases leading to D-erythrose-4-phosphate in Brucella

Proceedings of the National Academy of Sciences - PNAS, 2014-12, Vol.111 (50), p.17815-17820

2014

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Molecular Identification of Hydroxylysine Kinase and of Ammoniophospholyases Acting on 5-Phosphohydroxy-l-lysine and Phosphoethanolamine

The Journal of biological chemistry, 2012-03, Vol.287 (10), p.7246-7255

2012

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D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Human mutation, 2019-07, Vol.40 (7), p.975-982

2019

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Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors

Diagnostics (Basel), 2023-05, Vol.13 (10), p.1803

2023

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Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor

Metabolite damage and its repair or pre-emption

Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

NAT6 acetylates the N‐terminus of different forms of actin

Increased protein glycation in fructosamine 3-kinase-deficient mice

Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5

Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1)

Inborn errors of metabolite repair

Phosphoglycolate has profound metabolic effects but most likely no role in a metabolic DNA response in cancer cell lines

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

Binding of mannose-binding lectin to fructosamines: a potential link between hyperglycaemia and complement activation in diabetes

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

Erythritol feeds the pentose phosphate pathway via three new isomerases leading to D-erythrose-4-phosphate in Brucella

Molecular Identification of Hydroxylysine Kinase and of Ammoniophospholyases Acting on 5-Phosphohydroxy-l-lysine and Phosphoethanolamine

D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors

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