Nature Search

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Here, the authors describe a noncoding genetic variant in GBA1 specific to people of African ancestry that increases the risk of neurodegenerative diseases by interfering with the splicing of mRNA, resulting in lowered protein levels and activity.

Pilar Álvarez Jerez
Peter Wild Crea
Cornelis Blauwendraat
ResearchOpen Access12 Dec 2024
Nature Structural & Molecular Biology

Volume: 31, P: 1955-1963
Low-pressure nucleation routes

Michael Pinneo
News & Views14 Dec 1989
Nature

Volume: 342, P: 735-736
Solvatochromic covalent organic frameworks

Covalent organic frameworks (COFs) find increasing application as sensor material, but fast switching solvatochromism was not realized. Here the authors demonstrate that combination of electron-rich and -deficient building blocks leads to COFs which fast and reversibly change of their electronic structure depending on the surrounding atmosphere.

Laura Ascherl
Emrys W. Evans
Florian Auras
ResearchOpen Access18 Sept 2018
Nature Communications

Volume: 9, P: 1-8
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

Lara M. Lange
Kristin Levine
Masharip Atadzhanov
ResearchOpen Access25 Mar 2025
npj Parkinson's Disease

Volume: 11, P: 1-10
A roadmap for AI in robotics

AI technologies are advancing rapidly, offering new solutions for autonomous robot operation in complex environments. Aude Billard et al. discuss the need to identify and adapt AI technologies for robotics, proposing a research roadmap to address key challenges and opportunities.

Aude Billard
Alin Albu-Schaeffer
Davide Scaramuzza
Reviews19 Jun 2025
Nature Machine Intelligence

Volume: 7, P: 818-824
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer
Michael Pusch
Vera M. Kalscheuer
ResearchOpen Access16 Nov 2022
Molecular Psychiatry

Volume: 28, P: 668-697
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Maria Iqbal
Reza Maroofian
Gökhan Yigit
ResearchOpen Access09 Jul 2021
Genetics in Medicine

Volume: 23, P: 2138-2149
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

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African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Low-pressure nucleation routes

Solvatochromic covalent organic frameworks

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

A roadmap for AI in robotics

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

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

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