Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

4.4K
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,...
4.4K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

643
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...
643
Lysosomes01:31

Lysosomes

25.1K
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,...
25.1K
Glucose Transporters01:27

Glucose Transporters

27.0K
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:
27.0K
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

5.0K
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
5.0K
Delivery Pathways to the Lysosome01:36

Delivery Pathways to the Lysosome

8.7K
Eukaryotic cells use different mechanisms to eliminate toxic waste obsolete and worn-out substances. Lysosomes play a pivotal role in this, and hence, these substances are carried to the lysosome from other parts of the cell and extracellular space through different pathways. The most elaborately studied pathways to the lysosome are the endocytic pathways.
Endocytosis
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...
8.7K

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

Neighbors who talk: Mitochondria-lysosome crosstalk in homeostasis.

Current opinion in cell biology·2026
Same author

Differential contribution of TFE3 isoforms to cell motility and invasion.

EMBO reports·2025
Same author

The lysosomal carrier SLC29A3 supports antibacterial signaling, and promotes autophagy by activating TRPML1 in murine dendritic cells.

Proceedings of the National Academy of Sciences of the United States of America·2025
Same author

The lysosomal carrier SLC29A3 supports anti-bacterial signaling and promotes autophagy by activating TRPML1 in mouse dendritic cells.

bioRxiv : the preprint server for biology·2025
Same author

The transcription factors Tfeb and Tfe3 are required for survival and embryonic development of pancreas and liver in zebrafish.

PLoS genetics·2025
Same author

Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease.

Clinical and translational medicine·2025

関連する実験動画

Updated: Dec 29, 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

8.4K

スナップショット:ライソーム性貯蔵病

José A Martina1, Nina Raben1, Rosa Puertollano1

  • 1Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Cell
|February 8, 2020
PubMed
まとめ

溶解体貯蔵疾患 (LSD) は,溶解体が分解されていない物質を蓄積する遺伝的代謝障害を含む. このレビューは,タンパク質の機能,病原性,およびLSDの現在の治療法をカバーしています.

科学分野:

  • 生物化学
  • 遺伝学
  • 細胞生物学

背景:

  • 溶解体貯蔵疾患 (LSD) は単一性遺伝代謝障害である.
  • 溶解体内の未分解基質の蓄積によって特徴付けられる.
  • これはリソソーム活動と細胞ホメオスタシスの障害につながる.

研究 の 目的:

  • LSD に関するタンパク質の細胞内局所と機能を要約する.
  • LSDにおける一般的な病原性メカニズムを概説する.
  • LSDの現在の治療戦略をレビューする.

主な方法:

  • 既存のデータの文献レビューと合成.
  • タンパク質の位置づけと機能に 焦点を当てる
  • LSDの病原性と治療方法の分析

主要な成果:

  • 様々なLSDに関与するタンパク質の詳細な概要
  • タンパク質の機能不全が基板の蓄積にどのように貢献するか説明する.
  • 異なるLSDで影響を受ける一般的な経路の特定

結論:

さらに関連する動画

Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles
06:58

Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles

Published on: October 18, 2024

1.1K
Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

9.1K

関連する実験動画

Last Updated: Dec 29, 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

8.4K
Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles
06:58

Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles

Published on: October 18, 2024

1.1K
Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

9.1K
  • タンパク質の役割を理解することは,LSDの病原性にとって極めて重要です.
  • 現在の治療法は特定の分子欠陥や症状に対処することを目的としています.
  • タンパク質の機能に関するさらなる研究は,新しい治療標的を明らかにすることができます.