Nature Search

Munc13-1 restoration mitigates presynaptic pathology in spinal muscular atrophy

Defective neurotransmission is a hallmark of spinal muscular atrophy (SMA). Here, the authors show that local presynaptic Munc13-1synthesis is defective in SMA and that modification of the Munc13-1 mRNA rescues presynaptic architecture and excitability.

Mehri Moradi
Julia Weingart
Michael Sendtner
ResearchOpen Access30 Sept 2025
Nature Communications

Volume: 16, P: 1-23
hnRNP R promotes O-GlcNAcylation of eIF4G and facilitates axonal protein synthesis

HnRNP R regulates the axonal transcriptome. Here the authors show that hnRNP R is a component of translation initiation complexes and interacts with O-linked β-N-acetylglucosamine (O-GlcNAc) transferase (Ogt), promoting O-GlcNAcylation of eIF4G.

Abdolhossein Zare
Saeede Salehi
Michael Sendtner
ResearchOpen Access28 Aug 2024
Nature Communications

Volume: 15, P: 1-20
Pandemic (H1N1) 2009 Cluster Analysis: A Preliminary Assessment

Charles Wick
Michael Stanford
Alan Zulich
ResearchOpen Access16 Sept 2009
Nature Precedings

P: 1
Sex-specific differences in risk factors and outcomes for long-term mechanical ventilation: a longitudinal cohort analysis of claims data

Franziska C. Trudzinski
Benjamin Neetz
Thomas Wiesmann
ResearchOpen Access08 Oct 2025
Scientific Reports

Volume: 15, P: 1-10
Interaction of 7SK with the Smn complex modulates snRNP production

The noncoding RNA 7SK controls the transcription of mRNAs. Here, the authors show that the 7SK complex interacts with the Smn complex, suggesting crosstalk between transcription and snRNP assembly.

Changhe Ji
Jakob Bader
Michael Briese
ResearchOpen Access24 Feb 2021
Nature Communications

Volume: 12, P: 1-15
Publisher Correction: A systems view of spliceosomal assembly and branchpoints with iCLIP

Michael Briese
Nejc Haberman
Jernej Ule
Amendments and Corrections05 May 2021
Nature Structural & Molecular Biology

Volume: 28, P: 455
Why do maternally inherited microorganisms kill males?

Gregory D D Hurst
Michael E N Majerus
Research01 Jul 1993
Heredity

Volume: 71, P: 81-95
Cytosolic Ptbp2 modulates axon growth in motoneurons through axonal localization and translation of Hnrnpr

The neuronal RNA-binding protein Ptbp2 is known to regulate neuronal differentiation by modulating alternative splicing. Here, the authors reveal an additional role of cytosolic Ptbp2, which regulates axon growth by fine-tuning the mRNA transport and local synthesis of an RNA-binding protein hnRNP R.

Saeede Salehi
Abdolhossein Zare
Michael Sendtner
ResearchOpen Access12 Jul 2023
Nature Communications

Volume: 14, P: 1-19
Plekhg5 controls the unconventional secretion of Sod1 by presynaptic secretory autophagy

Unconventional protein secretion emerges as an important mechanism in aggregate-prone protein removal. Here, the authors demonstrate that Plekhg5 mediates the unconventional secretion of Sod1 by presynaptic secretory autophagy.

Amy-Jayne Hutchings
Bita Hambrecht
Patrick Lüningschrör
ResearchOpen Access04 Oct 2024
Nature Communications

Volume: 15, P: 1-18
Author Correction: A combined risk score enhances prediction of type 1 diabetes among susceptible children

Lauric A. Ferrat
Kendra Vehik
Roy Tamura
Amendments and Corrections14 Feb 2022
Nature Medicine

Volume: 28, P: 599
A systems view of spliceosomal assembly and branchpoints with iCLIP

Mapping spliceosome engagement with pre-mRNAs using iCLIP reveals how the position and strength of branchpoints affect the crosslinking patterns of spliceosomal factors.

Michael Briese
Nejc Haberman
Jernej Ule
Research30 Sept 2019
Nature Structural & Molecular Biology

Volume: 26, P: 930-940
Structure of an RNA polymerase II–RNA inhibitor complex elucidates transcription regulation by noncoding RNAs

Hubert Kettenberger
Alexander Eisenführ
Patrick Cramer
Research11 Dec 2005
Nature Structural & Molecular Biology

Volume: 13, P: 44-48
Author Correction: A systems view of spliceosomal assembly and branchpoints with iCLIP

Michael Briese
Nejc Haberman
Jernej Ule
Amendments and Corrections08 Jul 2020
Nature Structural & Molecular Biology

Volume: 27, P: 768
A combined risk score enhances prediction of type 1 diabetes among susceptible children

In a study of children with high genetic risk aged 2 years or older, a risk score integrating pancreatic islet autoantibodies, genetic factors and family history is highly predictive of type 1 diabetes in the subsequent 8 years.

Lauric A. Ferrat
Kendra Vehik
Roy Tamura
Research07 Aug 2020
Nature Medicine

Volume: 26, P: 1247-1255
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

TDP-43 is a RNA-binding protein that forms inclusion bodies in ALS. The authors show that TDP-43 preferentially binds long clusters of UG-rich sequences and that TDP-43 binding on pre-mRNAs influences alternative splicing. Many alternative mRNA isoforms regulated by TDP-43 encode proteins that regulate neuronal development or are implicated in neurological diseases.

James R Tollervey
Tomaž Curk
Jernej Ule
Research27 Feb 2011
Nature Neuroscience

Volume: 14, P: 452-458
The effect of infection with male-killing Rickettsia on the demography of female Adalia bipunctata L. (two spot ladybird)

Gregory D D Hurst
Emma L Purvis
Michael E N Majerus
Research01 Sept 1994
Heredity

Volume: 73, P: 309-316
Recursive splicing in long vertebrate genes

Highly conserved recursive splice sites are identified in vertebrates, particularly within long genes encoding proteins that are involved in neuronal development; analysis of the splicing mechanism reveals that such recursive splicing sites can be used to dictate different mRNA isoforms.

Christopher R. Sibley
Warren Emmett
Jernej Ule
Research13 May 2015
Nature

Volume: 521, P: 371-375
Voltage-independent GluN2A-type NMDA receptor Ca²⁺ signaling promotes audiogenic seizures, attentional and cognitive deficits in mice

Ilaria Bertocchi et al. use a mouse model of Grin2a dysfunction to show that activity-independent NMDA receptors are involved in audiogenic seizure generation. Their results suggest a role for NMDA receptors in maintaining an appropriate response to sensory stimuli and a potential mechanism for disease phenotypes in epilepsy patients with GRIN2A mutations.

Ilaria Bertocchi
Ahmed Eltokhi
Rolf Sprengel
ResearchOpen Access08 Jan 2021
Communications Biology

Volume: 4, P: 1-21
Crystal structure of the plasma membrane proton pump

In plants and fungi, cellular ion homeostasis is powered by the proton pump, a member of the P-type ATPase family. The first X-ray structure of the H⁺-ATPase is presented, and insight into the mechanism by which protons are transported against an electrochemical gradient is provided.

Bjørn P. Pedersen
Morten J. Buch-Pedersen
Poul Nissen
Research13 Dec 2007
Nature

Volume: 450, P: 1111-1114
Risk of celiac disease autoimmunity is modified by interactions between CD247 and environmental exposures

Anna Eurén
Kristian Lynch
Eric Triplett
ResearchOpen Access26 Oct 2024
Scientific Reports

Volume: 14, P: 1-14
Structure of the proton-gated urea channel from the gastric pathogen Helicobacter pylori

The crystal structure of the inner-membrane urea channel HpUreI from Helicobacter pylori, the causative organism of peptic ulcers, reveals how the channel selectively transports urea across the membrane and buffers the pathogen’s periplasmic pH against the acidic gastric environment.

David Strugatsky
Reginald McNulty
Hartmut Luecke
Research09 Dec 2012
Nature

Volume: 493, P: 255-258
Telomere length is not a main factor for the development of islet autoimmunity and type 1 diabetes in the TEDDY study

Carina Törn
Xiang Liu
Eric W. Triplett
ResearchOpen Access16 Mar 2022
Scientific Reports

Volume: 12, P: 1-11
Dynamic changes in immune gene co-expression networks predict development of type 1 diabetes

Ingrid Brænne
Suna Onengut-Gumuscu
Eric Triplett
ResearchOpen Access22 Nov 2021
Scientific Reports

Volume: 11, P: 1-13
Children’s erythrocyte fatty acids are associated with the risk of islet autoimmunity

Sari Niinistö
Iris Erlund
Eric Triplett
ResearchOpen Access11 Feb 2021
Scientific Reports

Volume: 11, P: 1-12
A Comparison of Rule-based Analysis with Regression Methods in Understanding the Risk Factors for Study Withdrawal in a Pediatric Study

Mona Haghighi
Suzanne Bennett Johnson
Thomas Briese
ResearchOpen Access26 Aug 2016
Scientific Reports

Volume: 6, P: 1-12
Complement gene variants in relation to autoantibodies to beta cell specific antigens and type 1 diabetes in the TEDDY Study

Carina Törn
Xiang Liu
Mari Åkerlund
ResearchOpen Access16 Jun 2016
Scientific Reports

Volume: 6, P: 1-10
Metabolite-related dietary patterns and the development of islet autoimmunity

Randi K. Johnson
Lauren Vanderlinden
Eric Triplett
ResearchOpen Access15 Oct 2019
Scientific Reports

Volume: 9, P: 1-11
Author Correction: Voltage-independent GluN2A-type NMDA receptor Ca²⁺ signaling promotes audiogenic seizures, attentional and cognitive deficits in mice

Ilaria Bertocchi
Ahmed Eltokhi
Rolf Sprengel
Amendments and CorrectionsOpen Access09 Feb 2021
Communications Biology

Volume: 4, P: 1
Mutations in the Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome and Occur in Exons 8 and 9

Bettina Mucha
Fatih Ozaltin
Friedhelm Hildebrandt
Research01 Feb 2006
Pediatric Research

Volume: 59, P: 325-331
Correction: Corrigendum: A Comparison of Rule-based Analysis with Regression Methods in Understanding the Risk Factors for Study Withdrawal in a Pediatric Study

Mona Haghighi
Suzanne Bennett Johnson
Thomas Briese
Amendments and CorrectionsOpen Access02 May 2017
Scientific Reports

Volume: 7, P: 1

Search

Munc13-1 restoration mitigates presynaptic pathology in spinal muscular atrophy

hnRNP R promotes O-GlcNAcylation of eIF4G and facilitates axonal protein synthesis

Pandemic (H1N1) 2009 Cluster Analysis: A Preliminary Assessment

Sex-specific differences in risk factors and outcomes for long-term mechanical ventilation: a longitudinal cohort analysis of claims data

Interaction of 7SK with the Smn complex modulates snRNP production

Publisher Correction: A systems view of spliceosomal assembly and branchpoints with iCLIP

Why do maternally inherited microorganisms kill males?

Cytosolic Ptbp2 modulates axon growth in motoneurons through axonal localization and translation of Hnrnpr

Plekhg5 controls the unconventional secretion of Sod1 by presynaptic secretory autophagy

Author Correction: A combined risk score enhances prediction of type 1 diabetes among susceptible children

A systems view of spliceosomal assembly and branchpoints with iCLIP

Structure of an RNA polymerase II–RNA inhibitor complex elucidates transcription regulation by noncoding RNAs

Author Correction: A systems view of spliceosomal assembly and branchpoints with iCLIP

A combined risk score enhances prediction of type 1 diabetes among susceptible children

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

The effect of infection with male-killing Rickettsia on the demography of female Adalia bipunctata L. (two spot ladybird)

Recursive splicing in long vertebrate genes

Voltage-independent GluN2A-type NMDA receptor Ca²⁺ signaling promotes audiogenic seizures, attentional and cognitive deficits in mice

Crystal structure of the plasma membrane proton pump

Risk of celiac disease autoimmunity is modified by interactions between CD247 and environmental exposures

Structure of the proton-gated urea channel from the gastric pathogen Helicobacter pylori

Telomere length is not a main factor for the development of islet autoimmunity and type 1 diabetes in the TEDDY study

Dynamic changes in immune gene co-expression networks predict development of type 1 diabetes

Children’s erythrocyte fatty acids are associated with the risk of islet autoimmunity

A Comparison of Rule-based Analysis with Regression Methods in Understanding the Risk Factors for Study Withdrawal in a Pediatric Study

Complement gene variants in relation to autoantibodies to beta cell specific antigens and type 1 diabetes in the TEDDY Study

Metabolite-related dietary patterns and the development of islet autoimmunity

Author Correction: Voltage-independent GluN2A-type NMDA receptor Ca²⁺ signaling promotes audiogenic seizures, attentional and cognitive deficits in mice

Mutations in the Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome and Occur in Exons 8 and 9

Correction: Corrigendum: A Comparison of Rule-based Analysis with Regression Methods in Understanding the Risk Factors for Study Withdrawal in a Pediatric Study

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