The Nuclear Envelope and Human Disease-Reference-Cited by-同舟云学术

The Nuclear Envelope and Human Disease

Published:2004-10 Issue:5 Volume:19 Page:309-314
ISSN:1548-9213
Container-title:Physiology
language:en
Short-container-title:Physiology

Author:

Muchir Antoine¹,Worman Howard J.¹

Affiliation:

1. Departments of Medicine and of Anatomy and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York 10032

Abstract

Mutations in nuclear lamins A and C, intermediate filament proteins of the nuclear envelope, cause diseases affecting various tissues and the aging process. We review what is known about nuclear lamin function and the different diseases caused by mutations in lamins A and C and associated inner nuclear membrane proteins.

Publisher

American Physiological Society

Subject

Physiology

Link

https://www.physiology.org/doi/pdf/10.1152/physiol.00022.2004

Reference54 articles.

1. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

2. Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect

3. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

4. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

5. Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

Cited by 53 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Eukaryotic Cell Nucleus: Custodian of Genetic Information and Key to Understanding Nuclear Envelope Diseases;Annals of the Academy of Romanian Scientists Series on Biological Sciences;2023-10-30

2. Differential Gene Expression Signatures and Cellular Signaling Pathways induced by Lamin A/C Transcript Variants in MCF7 Cell Line;Frontiers in Bioscience-Landmark;2023-06-12

3. Negative correlation between the nuclear size and nuclear Lamina component Lamin A in intraductal papillary mucinous neoplasms of the pancreas;Pathology and Oncology Research;2022-12-06

4. 3D Single Molecule Super-Resolution Microscopy of Whole Nuclear Lamina;Frontiers in Chemistry;2022-04-28

5. Evolution and diversification of the nuclear envelope;Nucleus;2021-01-01