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

206
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...
206
Glucose Transporters01:27

Glucose Transporters

23.3K
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:
23.3K
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

1.4K
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
1.4K
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

5.9K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.9K
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

13.6K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
13.6K
Other Glycolytic Pathways01:24

Other Glycolytic Pathways

50
The pentose phosphate pathway (PPP) operates in parallel with glycolysis, facilitating the metabolism of both pentoses and glucose. This pathway consists of two distinct phases: the oxidative and non-oxidative phases. While it does not directly generate ATP, the intermediates formed during the process can integrate into glycolysis, contributing to cellular energy metabolism when required.Oxidative Phase: NADPH ProductionThe oxidative phase of the pentose phosphate pathway is primarily...
50

You might also read

Related Articles

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

Sort by
Same author

Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: Single-center cohort analysis.

The Journal of allergy and clinical immunology·2026
Same author

School Difficulties and Long COVID in Children and Adolescents.

Academic pediatrics·2026
Same author

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon-mediated fibrosis.

Journal of human immunity·2026
Same author

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.

The Journal of allergy and clinical immunology·2026
Same author

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency.

Journal of human immunity·2026
Same author

Social Determinants of Health and Pediatric Long COVID in the US.

JAMA pediatrics·2026
Same journal

A blind spot of human T cell immunology: epitope specificity in secondary lymphoid organs.

Current opinion in immunology·2026
Same journal

Germinal center responses at barrier organ sites.

Current opinion in immunology·2026
Same journal

Ocular sarcoidosis: from clinical signs to targeted interventions.

Current opinion in immunology·2026
Same journal

On or within: spatial determinants of antigen handling in the nasal turbinates.

Current opinion in immunology·2026
Same journal

Decoding the complexity of intestinal immunity with spatial transcriptomics.

Current opinion in immunology·2026
Same journal

Reconsidering the immunological aspects of solid-phase assays for antiphospholipid antibodies detection.

Current opinion in immunology·2026
See all related articles

Related Experiment Video

Updated: Jul 25, 2025

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

8.1K

ERBIN and phosphoglucomutase 3 deficiency.

Joshua D Milner1

  • 1Department of Pediatrics, Columbia University Irving Medical Center, USA.

Current Opinion in Immunology
|June 27, 2023
PubMed
Summary
This summary is machine-generated.

Mutations in ERBIN and phosphoglucomutase 3 (PGM3) cause rare atopic disorders with overlapping symptoms. ERBIN mutations enhance TGFb signaling, suggesting IL-4 receptor blockade for atopic disease treatment.

More Related Videos

In Vitro Assay to Measure Phosphatidylethanolamine Methyltransferase Activity
09:33

In Vitro Assay to Measure Phosphatidylethanolamine Methyltransferase Activity

Published on: January 5, 2016

9.9K
Identification of Intracellular Signaling Events Induced in Viable Cells by Interaction with Neighboring Cells Undergoing Apoptotic Cell Death
09:18

Identification of Intracellular Signaling Events Induced in Viable Cells by Interaction with Neighboring Cells Undergoing Apoptotic Cell Death

Published on: December 27, 2016

8.7K

Related Experiment Videos

Last Updated: Jul 25, 2025

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

8.1K
In Vitro Assay to Measure Phosphatidylethanolamine Methyltransferase Activity
09:33

In Vitro Assay to Measure Phosphatidylethanolamine Methyltransferase Activity

Published on: January 5, 2016

9.9K
Identification of Intracellular Signaling Events Induced in Viable Cells by Interaction with Neighboring Cells Undergoing Apoptotic Cell Death
09:18

Identification of Intracellular Signaling Events Induced in Viable Cells by Interaction with Neighboring Cells Undergoing Apoptotic Cell Death

Published on: December 27, 2016

8.7K

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • ERBIN and phosphoglucomutase 3 (PGM3) mutations are linked to rare primary atopic disorders.
  • These disorders present with allergic disease and connective tissue abnormalities, exhibiting unique multisystem manifestations.

Purpose of the Study:

  • To elucidate the molecular mechanisms underlying ERBIN and PGM3 related atopic disorders.
  • To identify potential therapeutic targets for atopic manifestations.

Main Methods:

  • Pathway analysis to investigate ERBIN mutation effects on TGFb and STAT3 signaling.
  • Exploration of potential overlaps in signaling pathways between ERBIN and PGM3 related disorders.

Main Results:

  • ERBIN mutations were found to enhance transforming growth factor beta (TGFb) signaling.
  • ERBIN mutations prevent STAT3 from negatively regulating TGFb signaling, leading to increased IL-4 receptor expression.
  • Preliminary studies suggest PGM3 deficiency may involve IL-6 receptor signaling defects.

Conclusions:

  • Enhanced TGFb signaling due to ERBIN mutations explains clinical overlap with STAT3 and TGFb signaling disorders.
  • Increased IL-4 receptor expression provides a rationale for IL-4 receptor blockade in treating atopic disease.
  • The precise mechanism of PGM3 deficiency in atopic phenotypes and its variability remains to be fully understood.