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List of works by Carolyn Sue

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Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

scientific article
The deubiquitinase USP15 antagonizes Parkin-mediated mitochondrial ubiquitination and mitophagy

scientific article
Population prevalence of the MELAS A3243G mutation

scientific article published on 8 January 2007
Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes

scientific article
Variance of gene expression identifies altered network constraints in neurological disease

scientific article
Disease-specific, neurosphere-derived cells as models for brain disorders

scientific article published on 10 August 2010
Mechanical Thrombectomy with a Self-Expanding Retrievable Intracranial Stent (Solitaire AB): Experience in 26 Patients with Acute Cerebral Artery Occlusion: Fig 1

scientific article published on April 14, 2011
Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

scientific article published on July 2016
Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

scientific article
Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein

scientific article
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

scientific article
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

scientific article published on 05 October 2015
Mitochondrial DNA haplogroups and age-related maculopathy

scientific article published on 01 September 2007
Cochlear origin of hearing loss in MELAS syndrome

scientific article published on March 1998
Prevalence of mitochondrial 1555A-->G mutation in adults of European descent

scientific article published in February 2009
Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis

scientific article
Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.

scientific article published on 3 April 2018
The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms

scientific article published on 21 April 2015
Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease.

scientific article
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings

scientific article published on 23 March 2010
Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease

scientific article published on 10 March 2017
A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

scientific article published on 20 December 2012
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

scientific article
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

scientific article published on July 24, 2015
The Association Between Olfactory Impairment and Total Mortality in Older Adults

scientific article published on November 10, 2011
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

scientific article
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome

scientific article published on 31 July 2002
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

scientific article published on 2 January 2015
New insights into the complex role of mitochondria in Parkinson's disease

scientific article published on 13 September 2018
Prevalence and neurodegenerative or other associations with olfactory impairment in an older community.

scientific article published in March 2010
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

scientific journal article
A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

scientific article published on 18 July 2015
Thioredoxin interacting protein (TXNIP) regulates tubular autophagy and mitophagy in diabetic nephropathy through the mTOR signaling pathway.

scientific article published on 06 July 2016
Expanding the phenotype of GMPPB mutations.

scientific article published on 12 February 2015
The broadening spectrum of mitochondrial disease: shifts in the diagnostic paradigm

scientific article
Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease

scientific article published in May 2007
High-resolution HLA-DRB1 genotyping in an Australian inclusion body myositis (s-IBM) cohort: an analysis of disease-associated alleles and diplotypes

scientific article published on 26 May 2012
Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation

scientific article published on 01 October 1997
Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia

scientific article published on 27 May 2016
Mitochondrial DNA haplogroups and age-related hearing loss

scientific article published in September 2007
Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia

scientific article
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

scientific article
Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy.

scientific article published on 13 December 2014
MELAS A3243G mitochondrial DNA mutation and age related maculopathy

scientific article published in December 2004
Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia.

scientific article published on 12 February 2015
A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases.

scientific article published on 27 April 2016
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

scientific article published on 19 February 2018
SPAST mutations in Australian patients with hereditary spastic paraplegia

scientific article published on December 1, 2012
The genetics of mitochondrial disease.

scientific article
Functional hyperspectral imaging captures subtle details of cell metabolism in olfactory neurosphere cells, disease-specific models of neurodegenerative disorders

scientific article published on October 26, 2015

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