Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.8K
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,...
3.8K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

145
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...
145
Lysosomes01:31

Lysosomes

16.8K
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,...
16.8K
Glucose Transporters01:27

Glucose Transporters

22.5K
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:
22.5K
Delivery Pathways to the Lysosome01:36

Delivery Pathways to the Lysosome

6.2K
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...
6.2K
Amyloid Fibrils03:03

Amyloid Fibrils

9.3K
Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
9.3K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Distinct neurostructural, cognitive, and neuropsychiatric associations of plasma p-tau217, and Aβ42/40 in Parkinson's disease and aging cohorts.

Frontiers in aging neuroscience·2026
Same author

Plasma p-tau217 Versus p-tau181 in Parkinson's Disease: Differential Associations with Alzheimer's Disease-Related Neurostructural Changes and Cognitive Function.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase.

Molecular genetics and metabolism reports·2026
Same author

Letter to the Editor: Gastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants-Authors' Reply.

European journal of neurology·2026
Same author

Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.

Genetics in medicine open·2026
Same author

Cranial nerves involvement in craniosynostosis: a systematic review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2026
Same journal

Preface.

Handbook of clinical neurology·2026
Same journal

Foreword.

Handbook of clinical neurology·2026
Same journal

Fundus autofluorescence imaging.

Handbook of clinical neurology·2026
Same journal

The electroretinogram as a means to study the physiology of the retina.

Handbook of clinical neurology·2026
Same journal

Adaptive optics scanning light ophthalmoscopy.

Handbook of clinical neurology·2026
Same journal

Modeling the human retina in a dish: Advances and future directions.

Handbook of clinical neurology·2026
查看所有相关文章

相关实验视频

Updated: Jun 12, 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

8.0K

lysosomal 储存疾病 lysosomal 储存疾病

Alessandro P Burlina1, Renzo Manara2, Daniela Gueraldi3

  • 1Neurology Unit, San Bassiano Hospital, Bassano del Grappa, Italy.

Handbook of clinical neurology
|September 25, 2024
PubMed
概括
此摘要是机器生成的。

溶酶体储存障碍 (LSD) 是一种遗传性代谢疾病,会导致细胞逐渐受损,通常会影响大脑. 治疗方法有限,大多数患者的治疗结果不佳.

关键词:
大脑磁共振成像 (MRI)酶替代疗法是一种酶替代疗法.在白血病中,白血病缩.脑白细胞病变 脑白细胞病变 脑白细胞病变 脑白细胞病变Lysosomal 疾病是一种溶解体疾病.新生儿查 新生儿查白质是白质的组成部分.

更多相关视频

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

600
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

7.9K

相关实验视频

Last Updated: Jun 12, 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

8.0K
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

600
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

7.9K

科学领域:

  • 生物化学 生物化学
  • 遗传学 是一个遗传学.
  • 神经学 神经学

背景情况:

  • 溶酶体储存障碍 (LSD) 源于遗传的代谢缺陷.
  • 这些疾病导致巨分子积累,炎症和细胞死亡.
  • 神经损伤,通常是退行性,是LSD的标志.

研究的目的:

  • 审查LSD中神经学参与的频谱.
  • 根据白质 (WM) 参与模式对LSD进行分类.
  • 总结临床表现,进展和治疗限制.

主要方法:

  • 关于LSD的文献综述,重点是神经学和WM病理学.
  • 将LSD分为一次性 (白血病) 和二次性 (白脑病) WM 参与的类别.
  • 综合临床数据,包括发病,症状和结果.

主要成果:

  • 患有LSD的人表现出各种神经症状,包括发育迟缓,和运动障碍.
  • 白质参与被分为主要 (白血病) 或次要 (白脑病变).
  • 虽然有些LSD存在于婴儿期,但其他LSD表现为青少年或成年形式,具有神经精神症状.

结论:

  • 遗传性神经疾病 (LSD) 是一大群具有不良预后的遗传性神经疾病.
  • 有效的治疗方法很少,这凸显了进一步治疗开发的必要性.
  • 了解WM参与有助于分类和管理这些复杂的疾病.