4.5 Article

Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

Emily P. McCann et al.

Summary: A study involving 757 sporadic ALS cases from Australia identified 43 ALS-implicated variants from 18 genes, with about one-third of cases carrying at least one variant. Oligogenic/polygenic sporadic ALS cases showed earlier age of onset.

JOURNAL OF MEDICAL GENETICS (2021)

Article Biochemistry & Molecular Biology

ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ

Stephanie L. Rayner et al.

Summary: Our study reveals that missense mutations in CCNF disrupt overall protein homeostasis, leading to protein aggregation and defects in autophagic machinery, which are associated with the pathogenesis of ALS/FTD. Additionally, we found that cyclin F interacts closely with proteins involved in RNA metabolism and RNA-binding proteins linked to ALS/FTD, indicating a potential connection between defective protein degradation systems and pathological accumulation of specific proteins in ALS/FTD.

HUMAN MOLECULAR GENETICS (2021)

Article Biochemistry & Molecular Biology

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention

Jack Humphrey et al.

NUCLEIC ACIDS RESEARCH (2020)

Article Biochemistry & Molecular Biology

Widespread intron retention impairs protein homeostasis in C9orf72 ALS brains

Qingqing Wang et al.

GENOME RESEARCH (2020)

Review Biochemistry & Molecular Biology

The Emerging Role of the RNA-Binding Protein SFPQ in Neuronal Function and Neurodegeneration

Yee Wa Lim et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Article Genetics & Heredity

Introns as Gene Regulators: A Brick on the Accelerator

Alan B. Rose

FRONTIERS IN GENETICS (2019)

Article Clinical Neurology

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

Rick A. A. van der Spek et al.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2019)

Review Neurosciences

ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

Rita Mejzini et al.

FRONTIERS IN NEUROSCIENCE (2019)

Article Biochemistry & Molecular Biology

Performance evaluation of pathogenicity-computation methods for missense variants

Jinchen Li et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Multidisciplinary Sciences

Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS

Raphaelle Luisier et al.

NATURE COMMUNICATIONS (2018)

Article Multidisciplinary Sciences

Cerebral ischemia induces the aggregation of proteins linked to neurodegenerative diseases

Anja Kahl et al.

SCIENTIFIC REPORTS (2018)

Article Cell Biology

Loss of Sfpq Causes Long-Gene Transcriptopathy in the Brain

Akihide Takeuchi et al.

CELL REPORTS (2018)

Review Medicine, General & Internal

Amyotrophic lateral sclerosis

Michael A. van Es et al.

LANCET (2017)

Article Biochemistry & Molecular Biology

SFPQ, a multifunctional nuclear protein, regulates the transcription of PDE3A

Dong Keun Rhee et al.

BIOSCIENCE REPORTS (2017)

Article Biochemical Research Methods

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

Yongwook Choi et al.

BIOINFORMATICS (2015)

Article Biotechnology & Applied Microbiology

StringTie enables improved reconstruction of a transcriptome from RNA-seq reads

Mihaela Pertea et al.

NATURE BIOTECHNOLOGY (2015)

Article Biochemical Research Methods

HISAT: a fast spliced aligner with low memory requirements

Daehwan Kim et al.

NATURE METHODS (2015)

Review Cell Biology

PSF: nuclear busy-body or nuclear facilitator?

Christopher A. Yarosh et al.

WILEY INTERDISCIPLINARY REVIEWS-RNA (2015)

Article Biochemical Research Methods

Trimmomatic: a flexible trimmer for Illumina sequence data

Anthony M. Bolger et al.

BIOINFORMATICS (2014)

Letter Biochemical Research Methods

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz et al.

NATURE METHODS (2014)

News Item Clinical Neurology

Genetic deletion could increase the risk of early-onset Parkinson's disease

[Anonymous]

FUTURE NEUROLOGY (2013)

Article Multidisciplinary Sciences

U1 small nuclear ribonucleoprotein complex and RNA splicing alterations in Alzheimer's disease

Bing Bai et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Neurosciences

Hippocampal Shape Analysis in Alzheimer's Disease and Frontotemporal Lobar Degeneration Subtypes

Olof Lindberg et al.

JOURNAL OF ALZHEIMERS DISEASE (2012)

Article Geriatrics & Gerontology

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

Kelly L. Williams et al.

NEUROBIOLOGY OF AGING (2012)

Article Neurosciences

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

James R. Tollervey et al.

NATURE NEUROSCIENCE (2011)

Article Multidisciplinary Sciences

A Molecular Mechanism for Circadian Clock Negative Feedback

Hao A. Duong et al.

SCIENCE (2011)

Article Biochemical Research Methods

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

Mark D. Robinson et al.

BIOINFORMATICS (2010)

Article Biochemical Research Methods

Improved method for combination of immunocytochemistry and Nissl staining

Andrea Kadar et al.

JOURNAL OF NEUROSCIENCE METHODS (2009)

Article Multidisciplinary Sciences

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

T. J. Kwiatkowski et al.

SCIENCE (2009)

Article Anatomy & Morphology

whitesnake/sfpq Is required for cell survival and neuronal development in the zebrafish

Laura Anne Lowery et al.

DEVELOPMENTAL DYNAMICS (2007)

Article Biochemistry & Molecular Biology

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Tetsuaki Arai et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)

Article Multidisciplinary Sciences

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Manuela Neumann et al.

SCIENCE (2006)