Kelly L. Williams
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View article: Genetic characterisation of ATXN2 in Australian amyotrophic lateral sclerosis
Genetic characterisation of ATXN2 in Australian amyotrophic lateral sclerosis Open
Large expansions of a trinucleotide repeat encoding a polyglutamine tract in ATXN2 are a known cause of spinocerebellar ataxia 2, and intermediate length expansions in this gene have been reported as a risk factor and phenotypic modifier f…
View article: Targeting Investigation and Treatment in Type 2 Myocardial Infarction
Targeting Investigation and Treatment in Type 2 Myocardial Infarction Open
It is feasible to recruit and randomize patients with type 2 myocardial infarction to a complex intervention targeting coronary or structural heart disease. A multicenter trial with an optimized intervention is now required to inform pract…
View article: The genetics of motor neuron disease in New Zealand
The genetics of motor neuron disease in New Zealand Open
Motor neuron disease (MND) is a group of adult-onset neurodegenerative diseases characterised by progressive motor neuron degeneration, of which amyotrophic lateral sclerosis (ALS) is the most common. MND is clinically heterogeneous with c…
View article: A meta-analysis of genetic variant pathogenicity and sex differences in<i>UBQLN2</i>-linked amyotrophic lateral sclerosis and frontotemporal dementia
A meta-analysis of genetic variant pathogenicity and sex differences in<i>UBQLN2</i>-linked amyotrophic lateral sclerosis and frontotemporal dementia Open
Ubiquilin 2, encoded by the X-linked UBQLN2 gene, is a ubiquitin-binding quality control protein. Pathogenic UBQLN2 genetic variants cause X-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS/FTD), however, c…
View article: Genetics of Motor Neuron Disease in New Zealand
Genetics of Motor Neuron Disease in New Zealand Open
Motor neuron disease (MND) is a group of neurodegenerative diseases characterised by adult-onset progressive degeneration of motor neurons, of which amyotrophic lateral sclerosis (ALS) is the most common. MND is clinically heterogenous wit…
View article: A female‐biased gene expression signature of dominance in cooperatively breeding meerkats
A female‐biased gene expression signature of dominance in cooperatively breeding meerkats Open
Dominance is a primary determinant of social dynamics and resource access in social animals. Recent studies show that dominance is also reflected in the gene regulatory profiles of peripheral immune cells. However, the strength and directi…
View article: Short tandem repeat expansions in <i>LRP12</i> are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry
Short tandem repeat expansions in <i>LRP12</i> are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry Open
In patients of Asian ancestry, a heterozygous CGG repeat expansion of >100 units in LRP12 is the cause of oculopharyngodistal myopathy type 1 (OPDM1). Repeat lengths of between 61 and 100 units have been associated with rare amyotrophic la…
View article: Hippocampal aggregation signatures of pathogenic <i>UBQLN2</i> in amyotrophic lateral sclerosis and frontotemporal dementia
Hippocampal aggregation signatures of pathogenic <i>UBQLN2</i> in amyotrophic lateral sclerosis and frontotemporal dementia Open
Pathogenic variants in the UBQLN2 gene cause X-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia characterized by ubiquilin 2 aggregates in neurons of the motor cortex, hippocampus and spinal cord. However, ubiqu…
View article: Machine Learning for Myocardial Infarction Compared With Guideline-Recommended Diagnostic Pathways
Machine Learning for Myocardial Infarction Compared With Guideline-Recommended Diagnostic Pathways Open
BACKGROUND: Collaboration for the Diagnosis and Evaluation of Acute Coronary Syndrome (CoDE-ACS) is a validated clinical decision support tool that uses machine learning with or without serial cardiac troponin measurements at a flexible ti…
View article: Short tandem repeat expansions in LRP12 are absent in familial and sporadic amyotrophic lateral sclerosis patients of European ancestry
Short tandem repeat expansions in LRP12 are absent in familial and sporadic amyotrophic lateral sclerosis patients of European ancestry Open
In patients of Asian ancestry, a heterozygous CGG repeat expansion of >100 units in LRP12 is the cause of oculopharyngodistal myopathy type 1 (OPDM1), and has been associated with amyotrophic lateral sclerosis (ALS) when repeat lengths are…
View article: Short tandem repeat expansions in LRP12 are absent in familial and sporadic amyotrophic lateral sclerosis patients of European ancestry
Short tandem repeat expansions in LRP12 are absent in familial and sporadic amyotrophic lateral sclerosis patients of European ancestry Open
In patients of Asian ancestry, a heterozygous CGG repeat expansion of >100 units in LRP12 is the cause of oculopharyngodistal myopathy type 1 (OPDM1), and has been associated with amyotrophic lateral sclerosis (ALS) when repeat lengths are…
View article: A female-biased gene expression signature of dominance in cooperatively breeding meerkats
A female-biased gene expression signature of dominance in cooperatively breeding meerkats Open
Dominance is a primary determinant of social dynamics and resource access in social animals. Recent studies show that dominance is also reflected in the gene regulatory profiles of peripheral immune cells. However, the strength and directi…
View article: ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation
ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation Open
Amyotrophic lateral sclerosis (ALS) is a severely debilitating neurodegenerative condition that is part of the same disease spectrum as frontotemporal dementia (FTD). Mutations in the CCNF gene, encoding cyclin F, are present in both spora…
View article: RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery
RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery Open
Aim Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative disease with limited therapeutic options. A key factor limiting the development of effective therapeutics is the lack of disease biomarkers. We sought to assess w…
View article: Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants Open
Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with genetic and phenotypic heterogeneity. Pathogenic genetic variants remain the only validated cause of disease, the majority of which were discovered i…
View article: Troponin in early presenters to rule out myocardial infarction
Troponin in early presenters to rule out myocardial infarction Open
Aims Whether a single cardiac troponin measurement can safely rule out myocardial infarction in patients presenting within a few hours of symptom onset is uncertain. The study aim was to assess the performance of troponin in early presente…
View article: The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis
The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis Open
Amyotrophic lateral sclerosis (ALS)- and frontotemporal dementia (FTD)-linked mutations in CCNF have been shown to cause dysregulation to protein homeostasis. CCNF encodes for cyclin F, which is part of the cyclin F-E3 ligase complex SCF c…
View article: Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia Open
Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), we used ExpansionHunter, REv…
View article: Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression
Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression Open
Mutations in the superoxide dismutase 1 ( SOD1 ) gene are the second most common known cause of ALS. SOD1 variants express high phenotypic variability and over 200 have been reported in people with ALS. Investigating how different SOD1 var…
View article: Identity-by-descent analysis of CMTX3 links three families through a common founder
Identity-by-descent analysis of CMTX3 links three families through a common founder Open
A large 78 kb insertion from chromosome 8q24.3 into Xq27.1 was identified as the cause of CMTX3 in three families of European descent from Australia (CMT193, CMT180) and New Zealand/United Kingdom (CMT623). Using the relatedness tool XIBD …
View article: Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS Open
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a p…
View article: Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtype<i>UBQLN2</i>in amyotrophic lateral sclerosis
Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtype<i>UBQLN2</i>in amyotrophic lateral sclerosis Open
Mutations in the UBQLN2 gene cause X-linked dominant amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) characterised by ubiquilin 2 aggregates in neurons of the motor cortex, hippocampus, and spinal cord. However, ub…
View article: Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis Open
These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.
View article: Mutant Cyclin F Impedes COPII Vesicle-Mediated ER-Golgi Trafficking and ER-Associated Degradation, Inducing ER Stress and Golgi Fragmentation in ALS/FTD
Mutant Cyclin F Impedes COPII Vesicle-Mediated ER-Golgi Trafficking and ER-Associated Degradation, Inducing ER Stress and Golgi Fragmentation in ALS/FTD Open
Background Mutations in the CCNF gene encoding cyclin F are associated with sporadic and familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, but the underlying pathophysiological mechanisms are unknown. Proper functio…