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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
CLSTN3β enforces adipocyte multilocularity to facilitate lipid utilization

An adipocyte-selective product of the Clstn3 locus (CLSTN3β) facilitates the use of stored triglyceride by limiting lipid droplet (LD) expansion, defining a molecular mechanism that regulates LD form and function to facilitate lipid utilization in thermogenic adipocytes.

Kevin Qian
Marcus J. Tol
Peter Tontonoz
Research07 Dec 2022
Nature

Volume: 613, P: 160-168
Proteogenomic landscape of squamous cell lung cancer

Squamous cell lung cancer has dismal prognosis due to the dearth of effective treatments. Here, the authors perform an integrated proteogenomic analysis of the disease, revealing three proteomics-based subtypes and suggesting potential therapeutic opportunities.

Paul A. Stewart
Eric A. Welsh
Eric B. Haura
ResearchOpen Access08 Aug 2019
Nature Communications

Volume: 10, P: 1-17
Kinetics of mRNA nuclear export regulate innate immune response gene expression

The UCLA Ribonomics group reports that the nuclear export efficiency of innate immune mRNAs varies over a hundred-fold range such that for many genes only a small fraction of the newly synthesized premRNA reaches the cytoplasm. They show that nuclear export and cytoplasmic decay rates are correlated thereby ensuring similar expression levels of short-lived and long-lived mRNAs.

Diane Lefaudeux
Supriya Sen
Sri Kosuri
ResearchOpen Access23 Nov 2022
Nature Communications

Volume: 13, P: 1-16
Beyond the Debye length in high ionic strength solution: direct protein detection with field-effect transistors (FETs) in human serum

Chia-Ho Chu
Indu Sarangadharan
Yu-Lin Wang
ResearchOpen Access12 Jul 2017
Scientific Reports

Volume: 7, P: 1-15
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

The Rbfox family of RNA binding proteins mediate alternative splicing. Douglas Black and colleagues show that targeted deletion of the mouse Rbfox1 gene in the CNS alters splice isoforms of a subset of genes and is associated with neural hyperexcitability with spontaneous and drug-induced seizures.

Lauren T Gehman
Peter Stoilov
Douglas L Black
Research29 May 2011
Nature Genetics

Volume: 43, P: 706-711
KLK3 SNP–SNP interactions for prediction of prostate cancer aggressiveness

Hui-Yi Lin
Po-Yu Huang
Jong Y. Park
ResearchOpen Access29 Apr 2021
Scientific Reports

Volume: 11, P: 1-15

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African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

CLSTN3β enforces adipocyte multilocularity to facilitate lipid utilization

Proteogenomic landscape of squamous cell lung cancer

Kinetics of mRNA nuclear export regulate innate immune response gene expression

Beyond the Debye length in high ionic strength solution: direct protein detection with field-effect transistors (FETs) in human serum

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

KLK3 SNP–SNP interactions for prediction of prostate cancer aggressiveness

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African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

CLSTN3β enforces adipocyte multilocularity to facilitate lipid utilization

Proteogenomic landscape of squamous cell lung cancer

Kinetics of mRNA nuclear export regulate innate immune response gene expression

Beyond the Debye length in high ionic strength solution: direct protein detection with field-effect transistors (FETs) in human serum

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

KLK3 SNP–SNP interactions for prediction of prostate cancer aggressiveness

Search

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