User profiles for "author:Carolyn Sue"
Carolyn SueProfessor and Kinghorn Chair, University of New South Wales, Sydney Verified email at neura.edu.au Cited by 29060 |
[HTML][HTML] Mitochondrial dysfunction in Parkinson's disease: new mechanistic insights and therapeutic perspectives
Abstract Purpose of Review Parkinson's disease (PD) is a complex neurodegenerative
disorder, the aetiology of which is still largely unknown. Overwhelming evidence indicates …
disorder, the aetiology of which is still largely unknown. Overwhelming evidence indicates …
[HTML][HTML] New insights into the complex role of mitochondria in Parkinson's disease
New discoveries providing insights into mitochondrial bioenergetics, their dynamic
interactions as well as their role in cellular homeostasis have dramatically advanced our …
interactions as well as their role in cellular homeostasis have dramatically advanced our …
N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force
C Marras, A Lang, BP van de Warrenburg… - Movement …, 2016 - Wiley Online Library
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …
with a familial disorder has a number of problems when used as a reference list of …
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
I Nishino, J Fu, K Tanji, T Yamada, S Shimojo, T Koori… - Nature, 2000 - nature.com
Abstract “Lysosomal glycogen storage disease with normal acid maltase”, which was
originally described by Danon et al., is characterized clinically by cardiomyopathy, myopathy …
originally described by Danon et al., is characterized clinically by cardiomyopathy, myopathy …
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
LC Papadopoulou, CM Sue, MM Davidson, K Tanji… - Nature …, 1999 - nature.com
Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from
cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial …
cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial …
[HTML][HTML] Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
AL Andreu, MG Hanna, H Reichmann… - … England Journal of …, 1999 - Mass Medical Soc
Background The mitochondrial myopathies typically affect many organ systems and are
associated with mutations in mitochondrial DNA (mtDNA) that are maternally inherited …
associated with mutations in mitochondrial DNA (mtDNA) that are maternally inherited …
Population prevalence of the MELAS A3243G mutation
N Manwaring, MM Jones, JJ Wang, E Rochtchina… - Mitochondrion, 2007 - Elsevier
We aimed to establish the population prevalence of the MELAS 3243A> G mtDNA mutation
in a large Caucasian-based population (n= 2954; 99% Caucasian, 57% women and mean …
in a large Caucasian-based population (n= 2954; 99% Caucasian, 57% women and mean …
The deubiquitinase USP15 antagonizes Parkin-mediated mitochondrial ubiquitination and mitophagy
T Cornelissen, D Haddad, F Wauters… - Human molecular …, 2014 - academic.oup.com
Loss-of-function mutations in PARK2, the gene encoding the E3 ubiquitin ligase Parkin, are
the most frequent cause of recessive Parkinson's disease (PD). Parkin translocates from the …
the most frequent cause of recessive Parkinson's disease (PD). Parkin translocates from the …
[HTML][HTML] Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
The purpose of this statement is to provide consensus-based recommendations for optimal
management and care for patients with primary mitochondrial disease. This statement is …
management and care for patients with primary mitochondrial disease. This statement is …
Activation of β-glucocerebrosidase reduces pathological α-synuclein and restores lysosomal function in Parkinson's patient midbrain neurons
Parkinson's disease (PD) is characterized by the accumulation of α-synuclein (α-syn) within
Lewy body inclusions in the nervous system. There are currently no disease-modifying …
Lewy body inclusions in the nervous system. There are currently no disease-modifying …