ORCID Profile
0000-0002-0353-365X
Current Organisations
Brunel University London
,
Université Libre de Bruxelles
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Publisher: Elsevier BV
Date: 12-2017
Publisher: Universitat Autonoma de Barcelona
Date: 2017
Publisher: Springer Science and Business Media LLC
Date: 18-09-2017
Publisher: Springer Science and Business Media LLC
Date: 16-09-2019
Publisher: Wiley
Date: 28-09-2020
Publisher: Cold Spring Harbor Laboratory
Date: 14-06-2018
DOI: 10.1101/347179
Abstract: Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, are of outmost importance for normal cell function. Defects in the process of nucleocytoplasmic transport or in its machinery have been frequently described in human diseases, such as cancer and neurodegenerative disorders, but only in a few cases of developmental disorders. Here we report biallelic mutations in the nucleoporin NUP88 as a novel cause of lethal fetal akinesia deformation sequence (FADS) in two families. FADS comprises a spectrum of clinically and genetically heterogeneous disorders with congenital malformations related to impaired fetal movement. We show that genetic disruption of nup88 in zebrafish results in pleiotropic developmental defects reminiscent of those seen in affected human fetuses, including locomotor defects as well as defects at neuromuscular junctions. Phenotypic alterations become visible at distinct developmental stages, both in affected human fetuses and in zebrafish, whereas early stages of development are apparently normal. The zebrafish phenotypes caused by nup88 deficiency are only rescued by expressing wild-type nup88 and not the disease-linked mutant forms of nup88. Furthermore, using human and mouse cell lines as well as immunohistochemistry on fetal muscle tissue, we demonstrate that NUP88 depletion affects rapsyn, a key regulator of the muscle nicotinic acetylcholine receptor at the neuromuscular junction. Together, our studies provide the first characterization of NUP88 in vertebrate development, expand our understanding of the molecular events causing FADS, and suggest that variants in NUP88 should be investigated in cases of FADS.
Publisher: Public Library of Science (PLoS)
Date: 13-12-2018
Publisher: Elsevier BV
Date: 02-2015
DOI: 10.1194/JLR.M054643
Publisher: Springer Science and Business Media LLC
Date: 27-01-2015
Publisher: Springer Science and Business Media LLC
Date: 09-11-2017
Publisher: Springer Science and Business Media LLC
Date: 27-10-2022
DOI: 10.1007/S12220-022-01048-1
Abstract: The relative index theorem is proved for general first-order elliptic operators that are complete and coercive at infinity over measured manifolds. This extends the original result by Gromov–Lawson for generalised Dirac operators as well as the result of Bär–Ballmann for Dirac-type operators. The theorem is seen through the point of view of boundary value problems, using the graphical decomposition of elliptically regular boundary conditions for general first-order elliptic operators due to Bär–Bandara. Splitting, decomposition and the Phi-relative index theorem are proved on route to the relative index theorem.
Publisher: American Mathematical Society (AMS)
Date: 22-04-2014
DOI: 10.1090/S0002-9939-2014-12284-2
Abstract: We study some canonical differential operators on vector bundles over smooth, complete Riemannian manifolds. Under very general assumptions, we show that smooth, compactly supported sections are dense in the domains of these operators. Furthermore, we show that smooth, compactly supported functions are dense in second order Sobolev spaces on such manifolds under the sole additional assumption that the Ricci curvature is uniformly bounded from below.
Publisher: Informa UK Limited
Date: 31-07-2019
Publisher: Springer Science and Business Media LLC
Date: 25-06-2015
Publisher: Institute of Mathematics, Polish Academy of Sciences
Date: 2013
DOI: 10.4064/SM216-3-1
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Benoit Vanhollebeke.