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 …
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 …
nuclear envelope (NE) components and related involvement in nuclei integrity and …
Disease modeling with human neurons reveals LMNB1 dysregulation underlying DYT1 dystonia
DYT1 dystonia is a hereditary neurologic movement disorder characterized by
uncontrollable muscle contractions. It is caused by a heterozygous mutation in Torsin A …
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 …
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 …
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 …
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
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 …
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
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 …
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
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 …
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 …
(CaMKII) was generated using homologous recombination. Null animals survive to larval …