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 Experiment Videos

[Lysosomal storage disease]

S Okada1

  • 1Department of Pediatrics, Osaka University, Faculty of Medicine.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|December 1, 1995
PubMed
Summary
This summary is machine-generated.

Lysosomal storage diseases stem from genetic defects impacting lysosomal enzymes, leading to substrate buildup and disease. This review covers their clinical aspects, diagnosis, and current research directions.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Changes of DNA methylation in protooncogenes in the process of radiation-induced transformation of mouse m5S/1M cells in vitro.

Cancer letters·1992
Same author

In vivo and in vitro stem cell function of c-kit- and Sca-1-positive murine hematopoietic cells.

Blood·1992
Same author

Elevation of hepatic levels of metallothionein and zinc in mice bearing experimental tumors.

Biochemical and biophysical research communications·1992
Same author

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome.

Biochemical and biophysical research communications·1992
Same author

1,25-Dihydroxyvitamin D3 does not up-regulate vitamin D receptor messenger ribonucleic acid levels in hypophosphatemic mice.

Bone and mineral·1992
Same author

Serial magnetic resonance imaging studies in a case of late onset globoid cell leukodystrophy.

Neuropediatrics·1992
Same journal

[Development of novel therapeutics for multiple myeloma and improvement of drug lag].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[Clinical pharmacy services to patients of immunomodulatory drugs].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[Therapeutic drug monitoring of the new anti-myeloma drugs in the treatment of multiple myeloma].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[Prognostic value of minimal residual disease assessment using next-generation sequencing in multiple myeloma].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[The evaluation of minimal residual disease in multiple myeloma by an allele-specific oligonucleotide real-time PCR].

Nihon rinsho. Japanese journal of clinical medicine·2019
Same journal

[Evaluation of minimal residual disease in myeloma by multiparametric flow cytometry].

Nihon rinsho. Japanese journal of clinical medicine·2019
See all related articles

Area of Science:

  • Cell Biology
  • Biochemistry
  • Genetics

Context:

  • Lysosomes are crucial cellular organelles responsible for intracellular digestion.
  • They contain approximately 40 distinct hydrolytic enzymes essential for breaking down waste materials.

Purpose:

  • To review the clinical features, diagnostic methods, and current research trends in lysosomal storage diseases.
  • To provide a comprehensive overview of these genetic disorders.

Summary:

  • Lysosomal storage diseases arise from genetic defects in lysosomal hydrolases.
  • These defects cause the accumulation of undigested substrates within lysosomes, leading to significant pathological consequences.
  • The review details the clinical manifestations, diagnostic approaches, and emerging research in the field.

Related Experiment Videos

Impact:

  • Enhances understanding of lysosomal storage diseases for researchers and clinicians.
  • Highlights the importance of genetic factors in lysosomal function and disease pathology.
  • Informs future research and therapeutic strategies for these rare genetic disorders.