Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.1K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.1K
Glucose Transporters01:27

Glucose Transporters

15.2K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
15.2K
Pleiotropy01:33

Pleiotropy

31.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.2K
Incomplete Dominance01:43

Incomplete Dominance

19.0K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
19.0K
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

94
Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
94
Multiple Allele Traits01:49

Multiple Allele Traits

32.7K
The Concept of Multiple Allelism
32.7K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Liver MR elastography in Gaucher disease: Longitudinal association with disease severity.

Molecular genetics and metabolism·2026
Same author

Nutritional intake in children with cerebral palsy and typically developing peers: A comprehensive study using a novel smartphone application.

Clinical nutrition ESPEN·2026
Same author

Longitudinal Trajectories of Sedentary Time and Physical Activity in Children With Cerebral Palsy: Time to Move.

Journal of physical activity & health·2026
Same author

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

The New England journal of medicine·2026
Same author

Transcriptomic Analysis Suggests Overlapping Molecular Pathogenesis in JIA-Associated and ANA-Positive Uveitis.

Biomolecules·2026
Same author

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Journal of inherited metabolic disease·2026
Same journal

Ebola at 50 - Lessons for Outbreak Response and Preparedness.

The New England journal of medicine·2026
Same journal

Ianalumab plus Eltrombopag in Immune Thrombocytopenia. Reply.

The New England journal of medicine·2026
Same journal

Ianalumab plus Eltrombopag in Immune Thrombocytopenia.

The New England journal of medicine·2026
Same journal

Hypertension Control in Low-Income Patients. Reply.

The New England journal of medicine·2026
Same journal

Hypertension Control in Low-Income Patients.

The New England journal of medicine·2026
Same journal

Hypertension Control in Low-Income Patients.

The New England journal of medicine·2026
See all related articles

Related Experiment Video

Updated: May 3, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

7.6K

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Laura C Tegtmeyer1, Stephan Rust, Monique van Scherpenzeel

  • 1The authors' affiliations are listed in the Appendix.

The New England Journal of Medicine
|February 7, 2014
PubMed
Summary
This summary is machine-generated.

Phosphoglucomutase 1 deficiency causes a rare congenital disorder of glycosylation. Galactose supplementation improves glycosylation and clinical symptoms in affected patients, offering a new therapeutic approach.

More Related Videos

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

6.9K
Author Spotlight: Identifying Compensatory Pathways in Malaria Parasites Containing Hypomorphic Allele of Essential Protein Kinases
09:13

Author Spotlight: Identifying Compensatory Pathways in Malaria Parasites Containing Hypomorphic Allele of Essential Protein Kinases

Published on: November 22, 2024

1.4K

Related Experiment Videos

Last Updated: May 3, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

7.6K
Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

6.9K
Author Spotlight: Identifying Compensatory Pathways in Malaria Parasites Containing Hypomorphic Allele of Essential Protein Kinases
09:13

Author Spotlight: Identifying Compensatory Pathways in Malaria Parasites Containing Hypomorphic Allele of Essential Protein Kinases

Published on: November 22, 2024

1.4K

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Congenital disorders of glycosylation (CDG) are genetic conditions impairing glycoprotein production.
  • A novel recessive CDG presented with diverse symptoms including hepatopathy, hypogonadism, and cardiac issues.

Purpose of the Study:

  • To identify the genetic cause of a novel CDG.
  • To investigate the efficacy of galactose supplementation as a therapeutic intervention.

Main Methods:

  • Homozygosity mapping and whole-exome sequencing identified phosphoglucomutase 1 (PGM1) mutations.
  • Assays measured PGM1 enzyme activity, glycosylation efficiency, and sugar metabolites.
  • Galactose supplementation was tested in vitro and in vivo.

Main Results:

  • Patients exhibited diminished PGM1 enzyme activity and abnormal N-glycans lacking galactose.
  • Galactose supplementation restored protein glycosylation in fibroblasts and showed clinical improvement in patients.
  • A novel screening test demonstrated good patient-control discrimination.

Conclusions:

  • Phosphoglucomutase 1 deficiency is a newly identified congenital disorder of glycosylation.
  • Galactose supplementation offers biochemical and potential clinical benefits for PGM1-CDG.
  • A new screening method for PGM1-CDG has been developed.