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Need for NAD+: Focus on Striated Muscle Laminopathies.


ABSTRACT: Laminopathies are a heterogeneous group of rare diseases caused by genetic mutations in the LMNA gene, encoding A-type lamins. A-type lamins are nuclear envelope proteins which associate with B-type lamins to form the nuclear lamina, a meshwork underlying the inner nuclear envelope of differentiated cells. The laminopathies include lipodystrophies, progeroid phenotypes and striated muscle diseases. Research on striated muscle laminopathies in the recent years has provided novel perspectives on the role of the nuclear lamina and has shed light on the pathological consequences of altered nuclear lamina. The role of altered nicotinamide adenine dinucleotide (NAD+) in the physiopathology of striated muscle laminopathies has been recently highlighted. Here, we have summarized these findings and reviewed the current knowledge about NAD+ alteration in striated muscle laminopathies, providing potential therapeutic approaches.

SUBMITTER: Cardoso D 

PROVIDER: S-EPMC7599962 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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Need for NAD<sup>+</sup>: Focus on Striated Muscle Laminopathies.

Cardoso Déborah D   Muchir Antoine A  

Cells 20201007 10


Laminopathies are a heterogeneous group of rare diseases caused by genetic mutations in the <i>LMNA</i> gene, encoding A-type lamins. A-type lamins are nuclear envelope proteins which associate with B-type lamins to form the nuclear lamina, a meshwork underlying the inner nuclear envelope of differentiated cells. The laminopathies include lipodystrophies, progeroid phenotypes and striated muscle diseases. Research on striated muscle laminopathies in the recent years has provided novel perspectiv  ...[more]

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