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

Lysosomes01:31

Lysosomes

26.1K
Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
26.1K
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

2.0K
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
2.0K
Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

1.7K
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
1.7K
Storage01:23

Storage

409
A schema is a mental framework that helps individuals organize and interpret information. Schemata, formed from previous experiences, influence how we process new information: how we encode it, the inferences we make, and how we retrieve it. For instance, a schema for what a typical classroom looks like might include desks, a teacher's desk, a whiteboard, and students in such an environment. This expectation helps us quickly understand and navigate new classrooms without needing to analyze...
409
Ischemic Heart Disease: Overview01:17

Ischemic Heart Disease: Overview

3.4K
Ischemic heart disease occurs when the heart's blood supply dwindles, causing an ominous lack of oxygen and nutrients. This deficiency, stemming from reduced or obstructed blood flow, spells danger, leading to heart muscle damage and dysfunction.
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
3.4K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

4.6K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.6K

You might also read

Related Articles

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

Sort by
Same author

Outcomes Linked to 3N2+1N1 Sampling by Surgery Type: A Commission on Cancer Lung Cancer Quality Metric.

Annals of thoracic surgery short reports·2026
Same author

First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 study.

Gene therapy·2026
Same author

Halide segregation to boost all-solid-state lithium-chalcogen batteries.

Science (New York, N.Y.)·2025
Same author

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

NPJ genomic medicine·2025
Same author

Racial/Ethnic Disparities in Lung Cancer Surgery Outcomes in the USA.

Epidemiologia (Basel, Switzerland)·2025
Same author

ASO Visual Abstract: The Impact of Preoperative Invasive Nodal Staging on Unexpected Mediastinal Upstaging in Early Stage Non-small Cell Lung Cancer.

Annals of surgical oncology·2025
Same journal

Towards haplotypes of blood group genes: the impact of long-read sequencing in molecular immunohematology.

Annals of translational medicine·2026
Same journal

Development of pharmacological interventions for the treatment of sarcopenia.

Annals of translational medicine·2026
Same journal

Fertility preservation in young women with breast cancer: a narrative review of effectiveness, oncologic safety, and clinical practice implications.

Annals of translational medicine·2026
Same journal

Propofol-based total intravenous anesthesia and recurrence-free survival after hepatectomy-does it improve outcomes?

Annals of translational medicine·2026
Same journal

Is pulmonary hypertension still a contraindication for lung volume reduction?-a narrative review of contemporary evidence.

Annals of translational medicine·2026
Same journal

Calcium montmorillonite clay: a clinically oriented narrative review of emerging perioperative and supportive applications.

Annals of translational medicine·2026
See all related articles

Related Experiment Video

Updated: Jan 29, 2026

Visualizing Mitophagy with Fluorescent Dyes for Mitochondria and Lysosome
07:56

Visualizing Mitophagy with Fluorescent Dyes for Mitochondria and Lysosome

Published on: November 30, 2022

6.1K

Lysosomal storage disease overview.

Angela Sun1

  • 1Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.

Annals of Translational Medicine
|February 12, 2019
PubMed
Summary
This summary is machine-generated.

Lysosomal storage diseases (LSDs) are inherited metabolic disorders caused by enzyme deficiencies, leading to substrate accumulation and diverse clinical symptoms. This review covers LSDs with available treatments, focusing on clinical features, diagnosis, and management.

Keywords:
FabryGaucherLysosomal storage disease (LSD)Niemann-Pickmucopolysaccharidosis (MPS)

More Related Videos

Characterization of Neuronal Lysosome Interactome with Proximity Labeling Proteomics
11:40

Characterization of Neuronal Lysosome Interactome with Proximity Labeling Proteomics

Published on: June 23, 2022

3.0K
Dual-color Correlative Light and Electron Microscopy for the Visualization of Interactions between Mitochondria and Lysosomes
10:25

Dual-color Correlative Light and Electron Microscopy for the Visualization of Interactions between Mitochondria and Lysosomes

Published on: September 27, 2024

1.1K

Related Experiment Videos

Last Updated: Jan 29, 2026

Visualizing Mitophagy with Fluorescent Dyes for Mitochondria and Lysosome
07:56

Visualizing Mitophagy with Fluorescent Dyes for Mitochondria and Lysosome

Published on: November 30, 2022

6.1K
Characterization of Neuronal Lysosome Interactome with Proximity Labeling Proteomics
11:40

Characterization of Neuronal Lysosome Interactome with Proximity Labeling Proteomics

Published on: June 23, 2022

3.0K
Dual-color Correlative Light and Electron Microscopy for the Visualization of Interactions between Mitochondria and Lysosomes
10:25

Dual-color Correlative Light and Electron Microscopy for the Visualization of Interactions between Mitochondria and Lysosomes

Published on: September 27, 2024

1.1K

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Lysosomal storage diseases (LSDs) are inherited metabolic disorders.
  • Caused by enzyme deficiencies, leading to substrate accumulation within lysosomes.
  • Resulting in a wide range of clinical manifestations based on the specific storage material and location.

Purpose of the Study:

  • To review the clinical features, diagnosis, and management of LSDs.
  • To emphasize LSDs for which therapeutic interventions are available.

Main Methods:

  • Literature review of inherited metabolic disorders.
  • Focus on lysosomal storage diseases (LSDs).
  • Synthesis of information on clinical presentation, diagnostic approaches, and treatment strategies.

Main Results:

  • LSDs present with diverse clinical symptoms due to undegraded substrate accumulation.
  • Specific examples of LSDs include Gaucher disease, Fabry disease, and Niemann-Pick disorders.
  • Management strategies vary, with treatments available for certain LSDs.

Conclusions:

  • Understanding the clinical features and diagnostic methods is crucial for managing LSDs.
  • Therapeutic options are expanding for specific lysosomal storage diseases (LSDs).
  • Early diagnosis and appropriate management can significantly impact patient outcomes.