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

Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

5.6K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
5.6K
Phosphoinositides and PIPs01:42

Phosphoinositides and PIPs

8.4K
Phosphoinositides are a group of phospholipids containing a glycerol backbone with two fatty acid chains and a phosphate attached to a myoinositol sugar ring. The inositol head group extends into the cytoplasm, where it is modified by adding phosphate groups to form phosphatidylinositol phosphates or PIPs.
Different phosphoinositides are synthesized and recruited on the cytosolic face of the plasma membrane. The localization of specific phosphoinositides concentrated in separate membrane...
8.4K
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

3.4K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
3.4K
Protein Transport to the Inner Chloroplast Membrane01:18

Protein Transport to the Inner Chloroplast Membrane

2.1K
Proteins targeted to the inner chloroplast membrane, or plastid proteins, are transported by two general pathways: the stop-transfer and the re-insertion or post-import pathways. Most plastid proteins carry N-terminal transit sequences and internal import sequences targeting it to the specific chloroplast subcompartment. Proteins targeted by the stop-transfer pathway have internal hydrophobic sequences that inhibit their translocation into the stroma. As a result, these precursors are arrested...
2.1K
Protein Transport to the Outer Chloroplast Membrane01:11

Protein Transport to the Outer Chloroplast Membrane

1.9K
Chloroplast outer membrane proteins encoded by the nucleus are synthesized in the cytosol. Soon after synthesis, they bind cytosolic factors such as 14-3-3 protein and the Hsp70 chaperones that keep these precursors in an unfolded state until their translocation.
Two models describe the mechanism of precursor recognition and entry across the outer membrane through the TOC complex. Model 1 suggests the newly synthesized precursor binds to the TOC receptor 159 and forms a complex.
1.9K

You might also read

Related Articles

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

Sort by
Same author

Disruption of Polycystin Ciliary Localization and Channel Function by Autosomal Dominant Polycystic Kidney Disease-Causing Polycystin-1 Variants.

Journal of the American Society of Nephrology : JASN·2026
Same author

Ift43 Controls the Ciliary Levels of Gli2 and Gli3.

bioRxiv : the preprint server for biology·2026
Same author

Activation of the ciliary kinase CDKL5 is mediated by the cyclin-dependent kinase CDK20/LF2 to control flagellar length.

PLoS biology·2025
Same author

The tetraspanin disc proteins, peripherin-2 and ROM1, facilitate CNG channel localization to the rod outer segment.

bioRxiv : the preprint server for biology·2025
Same author

Rag GTPases Suppress Renal Cystic Disease by Inhibiting TFEB Independently of mTORC1.

bioRxiv : the preprint server for biology·2025
Same author

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

Nature communications·2025

Related Experiment Video

Updated: May 30, 2025

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells
10:02

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on: December 12, 2014

12.1K

Inpp5e is crucial for photoreceptor outer segment maintenance.

Mohona Gupta1,2, Tylor R Lewis3, Michael W Stuck1

  • 1Program in Molecular Medicine, University of Massachusetts Chan Medical School, Suite 213 Biotech II, 373 Plantation Street, Worcester, MA 01605, USA.

Journal of Cell Science
|January 28, 2025
PubMed
Summary

Inositol polyphosphate-5-phosphatase E (INPP5E) is essential for photoreceptor outer segment maintenance. Its loss causes severe defects, leading to vision loss and retinal degeneration.

Keywords:
CiliaInpp5eRetinal degenerationVision

More Related Videos

Two Peeling Methods for the Isolation of Photoreceptor Cell Compartments in the Mouse Retina for Protein Analysis
11:08

Two Peeling Methods for the Isolation of Photoreceptor Cell Compartments in the Mouse Retina for Protein Analysis

Published on: December 7, 2021

3.1K
Electrophysiological Methods for Measuring Photopigment Levels in Drosophila Photoreceptors
08:09

Electrophysiological Methods for Measuring Photopigment Levels in Drosophila Photoreceptors

Published on: June 2, 2022

2.1K

Related Experiment Videos

Last Updated: May 30, 2025

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells
10:02

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on: December 12, 2014

12.1K
Two Peeling Methods for the Isolation of Photoreceptor Cell Compartments in the Mouse Retina for Protein Analysis
11:08

Two Peeling Methods for the Isolation of Photoreceptor Cell Compartments in the Mouse Retina for Protein Analysis

Published on: December 7, 2021

3.1K
Electrophysiological Methods for Measuring Photopigment Levels in Drosophila Photoreceptors
08:09

Electrophysiological Methods for Measuring Photopigment Levels in Drosophila Photoreceptors

Published on: June 2, 2022

2.1K

Area of Science:

  • Molecular Biology
  • Neuroscience
  • Genetics

Background:

  • Mutations in inositol polyphosphate-5-phosphatase E (INPP5E) cause retinal degeneration in humans, including Joubert syndrome, MORM syndrome, and non-syndromic blindness.
  • In mice, INPP5E mutations lead to various anomalies and prevent photoreceptor outer segment formation.

Purpose of the Study:

  • To investigate the specific function of Inpp5e in photoreceptor cells.
  • To elucidate the role of Inpp5e during outer segment development and maintenance.

Main Methods:

  • Generation of conditional and inducible knockout mice lacking Inpp5e in photoreceptors.
  • Analysis of photoreceptor morphology, outer segment development, and protein localization in knockout models.

Main Results:

  • Loss of Inpp5e resulted in severe defects in photoreceptor outer segment morphology, including shortening and reduced disc formation.
  • Structural abnormalities of the Golgi, mislocalized rhodopsin, actin network disruption, and accumulation of extracellular vesicles were observed.
  • Photoreceptor cell loss occurred in Inpp5e knockout models.

Conclusions:

  • Inpp5e is crucial for maintaining photoreceptor outer segment integrity and function.
  • The enzyme is essential for the normal process of outer segment renewal and disc morphogenesis.
  • Disruption of Inpp5e activity leads to retinal degeneration and potential blindness.