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。Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
Ian R. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2013)
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Pietro Fratta et al.
ACTA NEUROPATHOLOGICA (2013)
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
Sarah Mizielinska et al.
ACTA NEUROPATHOLOGICA (2013)
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
Kohji Mori et al.
ACTA NEUROPATHOLOGICA (2013)
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
Tania F. Gendron et al.
ACTA NEUROPATHOLOGICA (2013)
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
Kohji Mori et al.
ACTA NEUROPATHOLOGICA (2013)
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
Sandra Almeida et al.
ACTA NEUROPATHOLOGICA (2013)
Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
Jon Beck et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Association between repeat sizes and clinical and pathological characteristics in carriers of C90RF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
Marka van Blitterswijk et al.
LANCET NEUROLOGY (2013)
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD
Naoki Suzuki et al.
NATURE NEUROSCIENCE (2013)
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
Matthew B. Harms et al.
NEUROBIOLOGY OF AGING (2013)
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Peter E. A. Ash et al.
NEURON (2013)
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
Christopher J. Donnelly et al.
NEURON (2013)
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
Tao Zu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
Zihui Xu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
Clotilde Lagier-Tourenne et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Kohji Mori et al.
SCIENCE (2013)
Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion
Dhruv Sareen et al.
SCIENCE TRANSLATIONAL MEDICINE (2013)
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
Youn-Bok Lee et al.
CELL REPORTS (2013)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie et al.
LANCET NEUROLOGY (2012)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Non-ATG-initiated translation directed by microsatellite expansions
Tao Zu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders
Patricia Lillo et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2009)
The steroid hormone receptor EcR finely modulates Drosophila lifespan during adulthood in a sex-specific manner
Herve Tricoire et al.
MECHANISMS OF AGEING AND DEVELOPMENT (2009)
Exploiting position effects and the gypsy retrovirus insulator to engineer precisely expressed transgenes
Michele Markstein et al.
NATURE GENETICS (2008)
Expanded CTG repeats within the DMPK 3′ UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy
James P. Orengo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1
Maria de Haro et al.
HUMAN MOLECULAR GENETICS (2006)
GAL4 system in Drosophila:: A fly geneticist's Swiss army knife
JB Duffy
GENESIS (2002)
Genetically encoded synthesis of protein-based polymers with precisely specified molecular weight and sequence by recursive directional ligation: Examples from the elastin-like polypeptide system
DE Meyer et al.
BIOMACROMOLECULES (2002)
A conditional tissue-specific transgene expression system using inducible GAL4
T Osterwalder et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
GGA•TCC-interrupted triplets in long GAA•TTC repeats inhibit the formation of tripler and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities
N Sakamoto et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
分享论文
