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Article ; Online: Generating Membrane Curvature at the Nuclear Pore: A Lipid Point of View.

Peeters, Bas W A / Piët, Alexandra C A / Fornerod, Maarten

2022 Volume 11, Issue 3

Abstract: In addition to its structural role in enclosing and protecting the genome, the nuclear envelope (NE) forms a highly adaptive communication interface between the cytoplasm and the nuclear interior in eukaryotic cells. The double membrane of the NE is ... ...

Abstract	In addition to its structural role in enclosing and protecting the genome, the nuclear envelope (NE) forms a highly adaptive communication interface between the cytoplasm and the nuclear interior in eukaryotic cells. The double membrane of the NE is perforated by nuclear pores lined with large multi-protein structures, called nuclear-pore complexes (NPCs), which selectively allow the bi-directional transport of ions and macromolecular cargo. In order to nucleate a pore, the inner and outer nuclear membrane have to fuse at the site of NPC insertion, a process requiring both lipid bilayers to be deformed into highly curved structures. How this curvature is achieved and which factors are involved in inducing and stabilizing membrane curvature at the nuclear pore remain largely unclear. In this review, we will summarize the molecular mechanisms thought to be involved in membrane curvature generation, with a particular emphasis on the role of lipids and lipid metabolism in shaping the nuclear pore membrane.
MeSH term(s)	Eukaryotic Cells/metabolism ; Lipid Bilayers/metabolism ; Nuclear Envelope/metabolism ; Nuclear Pore/metabolism ; Nuclear Pore Complex Proteins/metabolism
Chemical Substances	Lipid Bilayers ; Nuclear Pore Complex Proteins
Language	English
Publishing date	2022-01-29
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells11030469
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Article ; Online: RS and RGG repeats as primitive proteins at the transition between the RNA and RNP worlds.

Fornerod, Maarten

Nucleus (Austin, Tex.)

2011 Volume 3, Issue 1, Page(s) 4–5

Abstract: For many experimental biologists in the field of nuclear cell biology, low complexity repeats in nuclear proteins constitute a nuisance. They are difficult to express, impossible to crystalize and have low but near ubiquitous unwanted affinities toward ... ...

Abstract	For many experimental biologists in the field of nuclear cell biology, low complexity repeats in nuclear proteins constitute a nuisance. They are difficult to express, impossible to crystalize and have low but near ubiquitous unwanted affinities toward many biomolecules. Examples of such nuclear protein repeats are RS (Arg-Ser) repeats in splicing factors, RGG (Arg-Gly-Gly) repeats in hnRNP proteins and FG (Phe-Gly) repeats in nuclear pore components. Here, I would like to present a more positive perspective for at least a subset of repeats and suggest that they are excellent candidates to have constituted the first proteins emerging from an RNA world.
MeSH term(s)	Evolution, Chemical ; Origin of Life ; Protein Structure, Tertiary ; RNA/metabolism ; Repetitive Sequences, Amino Acid/physiology ; Ribonucleoproteins/chemistry ; Ribonucleoproteins/metabolism
Chemical Substances	Ribonucleoproteins ; RNA (63231-63-0)
Language	English
Publishing date	2011-11-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2619626-8
ISSN	1949-1042 ; 1949-1034
ISSN (online)	1949-1042
ISSN	1949-1034
DOI	10.4161/nucl.18631
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Article ; Online: Proximity Ligation Mapping of Microcephaly Associated SMPD4 Shows Association with Components of the Nuclear Pore Membrane.

Piët, Alexandra C A / Post, Marco / Dekkers, Dick / Demmers, Jeroen A A / Fornerod, Maarten

Cells

2022 Volume 11, Issue 4

Abstract: SMPD4 is a neutral sphingomyelinase implicated in a specific type of congenital microcephaly. Although not intensively studied, SMPD4 deficiency has also been found to cause cell division defects. This suggests a role for SMPD4 in cell-cycle and ... ...

Abstract	SMPD4 is a neutral sphingomyelinase implicated in a specific type of congenital microcephaly. Although not intensively studied, SMPD4 deficiency has also been found to cause cell division defects. This suggests a role for SMPD4 in cell-cycle and differentiation. In order to explore this role, we used proximity ligation to identify the partners of SMPD4 in vivo in HEK293T cells. We found that these partners localize near the endoplasmic reticulum (ER) and the nuclear membrane. Using mass spectrometry, we could identify these partners and discovered that SMPD4 is closely associated with several nucleoporins, including NUP35, a nucleoporin directly involved in pore membrane curvature and pore insertion. This suggests that SMPD4 may play a role in this process.
MeSH term(s)	HEK293 Cells ; Humans ; Microcephaly/metabolism ; Nuclear Envelope/metabolism ; Nuclear Pore/metabolism ; Nuclear Pore Complex Proteins/metabolism ; Sphingomyelin Phosphodiesterase/metabolism
Chemical Substances	Nuclear Pore Complex Proteins ; Sphingomyelin Phosphodiesterase (EC 3.1.4.12)
Language	English
Publishing date	2022-02-15
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells11040674
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Article ; Online: Training for a (half-)marathon: Training volume and longest endurance run related to performance and running injuries.

Fokkema, Tryntsje / van Damme, Ankie A D N / Fornerod, Maarten W J / de Vos, Robert-Jan / Bierma-Zeinstra, Sita M A / van Middelkoop, Marienke

Scandinavian journal of medicine & science in sports

2020 Volume 30, Issue 9, Page(s) 1692–1704

Abstract: Objective: Examine the associations of training volume and longest endurance run with (half-)marathon performance and running-related injuries (RRIs) in recreational runners.: Materials and methods: During the preparation for and directly after the ... ...

Abstract	Objective: Examine the associations of training volume and longest endurance run with (half-)marathon performance and running-related injuries (RRIs) in recreational runners. Materials and methods: During the preparation for and directly after the running event, 556 participants of a half marathon and 441 participants of a marathon completed three questionnaires on RRIs, average weekly training volume and the longest endurance run. With finish time, decline in pace during the running event and RRIs as dependent variables, linear and logistic regression analyses were performed to test the associations with weekly training volume and the longest endurance run. Results: In half-marathon runners, a high training volume (>32 km/wk) (β -4.19, 95% CI: -6.52;-1.85) and a long endurance run (>21 km) (β -3.87, 95% CI: -6.31;--1.44) were associated with a faster finish time, while a high training volume (β -1.81, 95% CI: -3.49;-0.12) and a long endurance run (β -1.89, 95% CI: -3.65;-0.12) were also related to less decline in pace. In marathon runners, a low training volume (<40 km/wk) was related to a slower finish time (β 6.33, 95% CI: 0.18;12.48) and a high training volume (>65 km/wk) to a faster finish time (β -14.09, 95% CI: -22.47;-5.72), while a longest endurance run of <25 km was associated with a slower finish time (β 13.44, 95% CI: 5.34;21.55). No associations between training characteristics and RRIs were identified. Conclusions: Preparation for a (half-)marathon with a relatively high training volume and long endurance runs associates with a faster finish time, but does not seem related to an increased injury risk.
MeSH term(s)	Adult ; Athletic Injuries/epidemiology ; Athletic Performance/statistics & numerical data ; Female ; Humans ; Male ; Marathon Running/injuries ; Marathon Running/statistics & numerical data ; Middle Aged ; Netherlands/epidemiology ; Surveys and Questionnaires
Language	English
Publishing date	2020-06-03
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	1077418-x
ISSN	1600-0838 ; 0905-7188
ISSN (online)	1600-0838
ISSN	0905-7188
DOI	10.1111/sms.13725
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Article ; Online: Characterization of genome-nucleoporin interactions in Drosophila links chromatin insulators to the nuclear pore complex.

Kalverda, Bernike / Fornerod, Maarten

Cell cycle (Georgetown, Tex.)

2010 Volume 9, Issue 24, Page(s) 4812–4817

Abstract: Nuclear pore complexes (NPCs) are multiprotein complexes consisting of nucleoporins and function in transport between the nucleus and the cytoplasm. In yeast, nucleoporins have also been linked to gene expression as well as to chromatin insulating ... ...

Abstract	Nuclear pore complexes (NPCs) are multiprotein complexes consisting of nucleoporins and function in transport between the nucleus and the cytoplasm. In yeast, nucleoporins have also been linked to gene expression as well as to chromatin insulating activity. Recently, we identified genomic regions that interact with nucleoporins in Drosophila using DamID technology. We found that nucleoporins in the nucleoplasm interact with active genes and stimulate gene expression. However, genes interacting with nucleoporins at the NPC itself show average gene expression and it remains unclear why they interact with the NPC. Here, we further investigated the function of the genome-NPC interactions. First, to investigate whether a different technique would lead to similar results, we compared our nucleoporin DamID data to recently published nucleoporin chromatin immunoprecipitation (ChIP) data. Then, to further understand the function of interactions between the genome and NPCs, we analyzed the relationship between NPC-interacting genomic regions and chromatin insulators. We found that the insulator protein Su(Hw) was enriched within and near NPC-interacting genomic regions, suggesting a role of this protein in chromatin architecture close to the NPC. This suggests that the NPC may have a function in the structural organization of the genome.
MeSH term(s)	Animals ; Chromatin/metabolism ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Genome ; Nuclear Pore/metabolism ; Nuclear Pore Complex Proteins/genetics ; Nuclear Pore Complex Proteins/metabolism
Chemical Substances	Chromatin ; Drosophila Proteins ; Nuclear Pore Complex Proteins ; nuclear pore complex protein 98
Language	English
Publishing date	2010-12-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2146183-1
ISSN	1551-4005 ; 1538-4101 ; 1554-8627
ISSN (online)	1551-4005
ISSN	1538-4101 ; 1554-8627
DOI	10.4161/cc.9.24.14328
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Article ; Online: Author Correction: An inflammatory state remodels the immune microenvironment and improves risk stratification in acute myeloid leukemia.

Nature cancer

2023 Volume 4, Issue 1, Page(s) 149

Language	English
Publishing date	2023-01-19
Publishing country	England
Document type	Published Erratum
ISSN	2662-1347
ISSN (online)	2662-1347
DOI	10.1038/s43018-023-00518-x
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Article ; Online: Analysis of rare driving events in pediatric acute myeloid leukemia.

Noort, Sanne / Oosterwijk, Jolieke van / Ma, Jing / Garfinkle, Elizabeth A R / Nance, Stephanie / Walsh, Michael / Song, Guangchun / Reinhardt, Dirk / Pigazzi, Martina / Locatelli, Franco / Hasle, Henrik / Abrahamsson, Jonas / Jarosova, Marie / Kelaidi, Charikleia / Polychronopoulou, Sophia / Van den Heuvel-Eibrink, Marry M / Fornerod, Maarten / Gruber, Tanja A / Zwaan, C Michel

Haematologica

2023 Volume 108, Issue 1, Page(s) 48–60

Abstract: Elucidating genetic aberrations in pediatric acute myeloid leukemia (AML) provides insight in biology and may impact on risk-group stratification and clinical outcome. This study aimed to detect such aberrations in a selected series of samples without ... ...

Abstract	Elucidating genetic aberrations in pediatric acute myeloid leukemia (AML) provides insight in biology and may impact on risk-group stratification and clinical outcome. This study aimed to detect such aberrations in a selected series of samples without known (cyto)genetic aberration using molecular profiling. A cohort of 161 patients was selected from various study groups: DCOG, BFM, SJCRH, NOPHO and AEIOP. Samples were analyzed using RNA sequencing (n=152), whole exome (n=135) and/or whole genome sequencing (n=100). In 70 of 156 patients (45%), of whom RNA sequencing or whole genome sequencing was available, rearrangements were detected, 22 of which were novel; five involving ERG rearrangements and four NPM1 rearrangements. ERG rearrangements showed self-renewal capacity in vitro, and a distinct gene expression pattern. Gene set enrichment analysis of this cluster showed upregulation of gene sets derived from Ewing sarcoma, which was confirmed comparing gene expression profiles of AML and Ewing sarcoma. Furthermore, NPM1-rearranged cases showed cytoplasmic NPM1 localization and revealed HOXA/B gene overexpression, as described for NPM1 mutated cases. Single-gene mutations as identified in adult AML were rare. Patients had a median of 24 coding mutations (range, 7-159). Novel recurrent mutations were detected in UBTF (n=10), a regulator of RNA transcription. In 75% of patients an aberration with a prognostic impact could be detected. Therefore, we suggest these techniques need to become standard of care in diagnostics.
MeSH term(s)	Child ; Adult ; Humans ; Sarcoma, Ewing ; Nucleophosmin ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/metabolism ; Mutation ; Transcriptome ; Prognosis
Chemical Substances	Nucleophosmin (117896-08-9)
Language	English
Publishing date	2023-01-01
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2021.280250
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Article ; Online: Acting out of character: regulatory roles of nuclear pore complex proteins.

Xylourgidis, Nikos / Fornerod, Maarten

Developmental cell

2009 Volume 17, Issue 5, Page(s) 617–625

Abstract: Nuclear pore complexes (NPCs) mediate all selective bidirectional transport between the nucleus and the cytoplasm. Additional functions for NPCs and their constituent proteins (nucleoporins) are emerging, some independent of classical transport. ... ...

Abstract	Nuclear pore complexes (NPCs) mediate all selective bidirectional transport between the nucleus and the cytoplasm. Additional functions for NPCs and their constituent proteins (nucleoporins) are emerging, some independent of classical transport. Specifically, enzymatic activities at the NPC regulate nucleocytoplasmic transport and use the NPC as a regulatory scaffold. Also, nucleoporins may regulate gene expression by contacting chromatin. Discriminating between effects on transport, scaffolding, and gene expression is a major challenge in understanding the role of the NPC in signaling and development.
MeSH term(s)	Animals ; Biological Transport ; Cell Nucleus/metabolism ; Cytoskeleton/metabolism ; Gene Expression Regulation, Developmental ; Humans ; Nuclear Pore Complex Proteins/metabolism ; Nuclear Pore Complex Proteins/ultrastructure ; Signal Transduction
Chemical Substances	Nuclear Pore Complex Proteins
Language	English
Publishing date	2009-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2054967-2
ISSN	1878-1551 ; 1534-5807
ISSN (online)	1878-1551
ISSN	1534-5807
DOI	10.1016/j.devcel.2009.10.015
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Zs.A 5742: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article: To the centre of the volcano. Workshop on the mechanisms of nucleocytoplasmic transport.

Fornerod, Maarten / Clarke, Paul R

EMBO reports

2008 Volume 9, Issue 5, Page(s) 419–424

MeSH term(s)	Active Transport, Cell Nucleus ; Animals ; Cell Nucleus/chemistry ; Cell Nucleus/genetics ; Cell Nucleus/metabolism ; Cell Nucleus/ultrastructure ; Cytoplasm/chemistry ; Cytoplasm/genetics ; Cytoplasm/metabolism ; Cytoplasm/ultrastructure ; Nuclear Pore/metabolism ; Nuclear Pore/ultrastructure ; Nucleocytoplasmic Transport Proteins/metabolism ; RNA, Messenger/metabolism ; Xenopus
Chemical Substances	Nucleocytoplasmic Transport Proteins ; RNA, Messenger
Language	English
Publishing date	2008-04-11
Publishing country	England
Document type	Congress
ZDB-ID	2020896-0
ISSN	1469-3178 ; 1469-221X
ISSN (online)	1469-3178
ISSN	1469-221X
DOI	10.1038/embor.2008.51
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Article: The nuclear life of nucleoporins.

Kalverda, Bernike / Fornerod, Maarten

Developmental cell

2007 Volume 13, Issue 2, Page(s) 164–165

Abstract: Nucleoporins are the constituents of the nuclear pore complex, but they are also known to shuttle to the nuclear interior, the function of which is unclear. In a recent issue of Nature Cell Biology, Wang et al.'s mechanistic studies of leukemogenic ... ...

Abstract	Nucleoporins are the constituents of the nuclear pore complex, but they are also known to shuttle to the nuclear interior, the function of which is unclear. In a recent issue of Nature Cell Biology, Wang et al.'s mechanistic studies of leukemogenic fusion proteins that contain nucleoporins suggest that they have a direct role in transcription.
MeSH term(s)	Cell Nucleus/metabolism ; Homeodomain Proteins/metabolism ; Models, Biological ; Nuclear Pore Complex Proteins/chemistry ; Nuclear Pore Complex Proteins/metabolism ; Repetitive Sequences, Amino Acid ; Saccharomyces cerevisiae/metabolism ; Transcription, Genetic
Chemical Substances	Homeodomain Proteins ; Nuclear Pore Complex Proteins ; nuclear pore complex protein 98
Language	English
Publishing date	2007-08
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2054967-2
ISSN	1878-1551 ; 1534-5807
ISSN (online)	1878-1551
ISSN	1534-5807
DOI	10.1016/j.devcel.2007.07.008
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