Amy Krans
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View article: Comparative analysis of RAN translation from CAG repeats within the Huntingtin coding sequence
Comparative analysis of RAN translation from CAG repeats within the Huntingtin coding sequence Open
Repeat associated non-AUG (RAN) translation is a non-canonical initiation event that occurs in the absence of a start codon in repeat expansion disorders, generating aggregation-prone proteins which may contribute to pathogenicity. The mec…
View article: Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation
Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation Open
Intronic GGGGCC hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Despite its intronic location, this repeat avidly supports synthesis of…
View article: Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation
Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation Open
Intronic GGGGCC hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Despite its intronic location, this repeat avidly supports synthesis of…
View article: AAGGG repeat expansions trigger <i>RFC1</i> -independent synaptic dysregulation in human CANVAS neurons
AAGGG repeat expansions trigger <i>RFC1</i> -independent synaptic dysregulation in human CANVAS neurons Open
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference CCCTT/AAGGG repeat expansions within RFC1 . To investigate how th…
View article: Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats
Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats Open
A GGGGCC (G4C2) hexanucleotide repeat expansion in C9ORF72 causes amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), while a CGG trinucleotide repeat expansion in FMR1 leads to the neurodegenerative disorder Fragile X-a…
View article: AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons Open
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late onset, recessively inherited neurodegenerative disorder caused by biallelic, non-reference pentameric AAGGG(CCCTT) repeat expansions within the second i…
View article: Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats
Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats Open
A GGGGCC (G4C2) hexanucleotide repeat expansion in C9ORF72 causes amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), while a CGG trinucleotide repeat expansion in FMR1 leads to the neurodegenerative disorder Fragile X-a…
View article: CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins
CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins Open
CGG repeat expansions in the FMR1 5’UTR cause the neurodegenerative disease Fragile X-associated tremor/ataxia syndrome (FXTAS). These repeats form stable RNA secondary structures that support aberrant translation in the absence of an AUG …
View article: Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome
Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome Open
Repeat associated non-AUG (RAN) translation of CGG repeats in the 5′UTR of FMR1 produces toxic proteins that contribute to fragile X-associated tremor/ataxia syndrome (FXTAS) pathogenesis. The most abundant RAN product, FMRpolyG, initiates…
View article: The RNA helicase DHX36/G4R1 modulates<i>C9orf72</i>GGGGCC repeat-associated translation
The RNA helicase DHX36/G4R1 modulates<i>C9orf72</i>GGGGCC repeat-associated translation Open
GGGGCC (G 4 C 2 ) hexanucleotide repeat expansions (HRE) in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Repeat-associated non-AUG (RAN) translation of this expansion g…
View article: The carboxyl-termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD
The carboxyl-termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD Open
An intronic hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This repeat is thought to elicit toxicity through RNA mediated protein sequestration…
View article: Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology
Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology Open
Co-occurrence of multiple neuropathologic changes is a common phenomenon, most prominently seen in Alzheimer’s disease (AD) and Parkinson’s disease (PD), complicating clinical diagnosis and patient management. Reports of co-occurring patho…
View article: Neuropathology of RAN translation proteins in Fragile X-associated Tremor/Ataxia Syndrome
Neuropathology of RAN translation proteins in Fragile X-associated Tremor/Ataxia Syndrome Open
CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of FXTAS. Both sense strand de…
View article: Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity
Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity Open
Hexanucleotide repeat expansions in C9orf72 are the most common inherited cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The expansions elicit toxicity in part through repeat-associated non-AUG (RAN) transl…