Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

A Janin, D Bauer, F Ratti, G Millat, A Méjat - Orphanet journal of rare …, 2017 - Springer
Since the identification of the first disease causing mutation in the gene coding for emerin, a
transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants …

Nesprins and lamins in health and diseases of cardiac and skeletal muscles

A Janin, V Gache - Frontiers in Physiology, 2018 - frontiersin.org
Since the discovery of the inner nuclear transmembrane protein emerin in the early 1990s,
nuclear envelope (NE) components and related involvement in nuclei integrity and …

Disease modeling with human neurons reveals LMNB1 dysregulation underlying DYT1 dystonia

B Ding, Y Tang, S Ma, M Akter, ML Liu… - Journal of …, 2021 - Soc Neuroscience
DYT1 dystonia is a hereditary neurologic movement disorder characterized by
uncontrollable muscle contractions. It is caused by a heterozygous mutation in Torsin A …

Nuclear scaling is coordinated among individual nuclei in multinucleated muscle fibers

SE Windner, A Manhart, A Brown, A Mogilner… - Developmental cell, 2019 - cell.com
Optimal cell performance depends on cell size and the appropriate relative size, ie, scaling,
of the nucleus. How nuclear scaling is regulated and contributes to cell function is poorly …

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

K Runge, R Mathieu, S Bugeon, S Lafi, C Beurrier… - Molecular …, 2021 - nature.com
While the transcription factor NEUROD2 has recently been associated with epilepsy, its
precise role during nervous system development remains unclear. Using a multi-scale …

Maintenance of subsynaptic myonuclei number is not driven by neural input

LP Ruiz, PC Macpherson, SV Brooks - Frontiers in Physiology, 2023 - frontiersin.org
The development and maintenance of neuromuscular junctions (NMJ) are supported by a
specialized population of myonuclei that are referred to as the subsynaptic myonuclei …

The Drosophila melanogaster attP40 docking site and derivatives are insertion mutations of msp-300

K van der Graaf, S Srivastav, P Singh, JA McNew… - PLoS …, 2022 - journals.plos.org
The ɸC31 integrase system is widely used in Drosophila melanogaster to allow transgene
targeting to specific loci. Over the years, flies bearing any of more than 100 attP docking …

Identification of a molecular basis for the juvenile sleep state

L Chakravarti Dilley, M Szuperak, NN Gong… - Elife, 2020 - elifesciences.org
Across species, sleep in young animals is critical for normal brain maturation. The molecular
determinants of early life sleep remain unknown. Through an RNAi-based screen, we …

RANBP17 overexpression restores nucleocytoplasmic transport and ameliorates neurodevelopment in induced DYT1 dystonia motor neurons

M Akter, H Cui, MA Hosain, J Liu, Y Duan… - Journal of …, 2024 - Soc Neuroscience
DYT1 dystonia is a debilitating neurological movement disorder, and it represents the most
frequent and severe form of hereditary primary dystonia. There is currently no cure for this …

The long 3′ UTR mRNA of CaMKII is essential for translation-dependent plasticity of spontaneous release in Drosophila melanogaster

EA Kuklin, S Alkins, B Bakthavachalu… - Journal of …, 2017 - Soc Neuroscience
A null mutation of the Drosophila calcium/calmodulin-dependent protein kinase II gene
(CaMKII) was generated using homologous recombination. Null animals survive to larval …