Read by QxMD icon Read


Sarah F Pollack, Olivia R Grocott, Kimberly A Parkin, Anna M Larson, Ronald L Thibert
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures are often the first seizure type to appear, and myoclonic status, associated with developmental regression, may occur in the first few years of life. Additionally, there have been rare reports of prolonged episodes of myoclonus without electrographic correlate in adults with AS...
March 16, 2018: Epilepsy & Behavior: E&B
Chris Chin Wah Chen, Avigail T Erlich, David A Hood
BACKGROUND: Parkin is a ubiquitin ligase that is involved in the selective removal of dysfunctional mitochondria. This process is termed mitophagy and can assist in mitochondrial quality control. Endurance training can produce adaptations in skeletal muscle toward a more oxidative phenotype, an outcome of enhanced mitochondrial biogenesis. It remains unknown whether Parkin-mediated mitophagy is involved in training-induced increases in mitochondrial content and function. Our purpose was to determine a role for Parkin in maintaining mitochondrial turnover in muscle, and its requirement in mediating mitochondrial biogenesis following endurance exercise training...
March 17, 2018: Skeletal Muscle
Claudia Caroline Veloso da Silva-Camargo, Rosimeri Kuhl Svoboda Baldin, Nayanne Louise Costacurta Polli, Amanda Pereira Agostinho, Marcia Olandosk, Lúcia de Noronha, Vanessa Santos Sotomaior
Objective: Features of colorectal cancer such as natural history, molecular, chromosomal, and epigenetic alterations have been well described. However, there is still a lack of accurate prognostic markers, which is evident by the lower overall survival rates of patients with advanced cancer. Although alterations in parkin protein expression have been described in colorectal cancer, the functional significance of this protein remains unknown. The present study aimed to investigate the involvement of parkin expression in colorectal adenocarcinoma development and progression by evaluating the association between its expression, clinicopathological parameters, and expression of known proteins involved in colorectal cancer...
February 2018: Cancer Biology & Medicine
Roshan Kumar, Raniki Kumari, Sanjay Kumar, Deepak Kumar Jangir, Tushar Kanti Maiti
α-Synuclein, a major constituent of proteinaceous inclusions named Lewy body, has been shown to be released and taken up by cells, which may facilitate its progressive pathological spreading and neuronal cell death in Parkinson's disease. However, the pathophysiological effect and signalling cascade initiated by extracellular α-synuclein in cellular milieu are not well understood. Herein we have investigated the perturbations induced by low molecular weight α-synuclein and different types of α-synuclein oligomers in the neuroblastoma SH-SY5Y cells...
March 14, 2018: Biomacromolecules
Yang Yuan, Shan-Shan Pan
BACKGROUND: Late exercise preconditioning (LEP) is confirmed to have a protective effect on acute cardiovascular stress. However, the mechanisms by which mitophagy participates in EP-induced cardioprotection remain unclear. LEP may involve mitophagy mediated by the receptors PARK2 gene-encoded E3 ubiquitin ligase (Parkin) and BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 (Bnip3) to scavenge damaged mitochondria. METHODS: Our exercise preconditioning (EP) protocol involved four 10-minute periods of running, separated by 10-minute recovery intervals, plus a period of exhaustive running at 24 hours after EP...
March 9, 2018: Journal of Cardiovascular Pharmacology
Yan Li, Ying Ma, Liqiang Song, Lu Yu, Le Zhang, Yingmei Zhang, Yuan Xing, Yue Yin, Heng Ma
Mitochondrial dynamics have critical roles in aging, and their impairment represents a prominent risk factor for myocardial dysfunction. Mitochondrial deacetylase sirtuin (SIRT)3 contributes greatly to the prevention of redox stress and cell aging. The present study explored the role of SIRT3 on myocardium aging. Western blot analysis demonstrated that SIRT3 expression levels were significantly lower in the myocardia of aged mice compared with young mice. Immunoprecipitation and western blot assays indicated that the activity of mitochondrial manganese superoxide dismutase (MnSOD) and peroxisome proliferator‑activated receptor γ coactivator (PGC)‑1α was reduced in the aged heart...
March 9, 2018: International Journal of Molecular Medicine
Jacob D Aguirre, Karen M Dunkerley, Rica Lam, Michele Rusal, Gary S Shaw
Autosomal recessive juvenile Parkinsonism (ARJP) is an inherited neurodegenerative disease in which 50% of affected individuals harbor mutations in the gene encoding the E3 ligase parkin. Parkin regulates the mitochondrial recycling pathway, which is induced by oxidative stress. In its native state, parkin is autoinhibited by its N-terminal ubiquitin-like (Ubl) domain which blocks the binding site for an incoming E2~ubiquitin conjugate, needed for parkin's ubiquitination activity. Parkin is activated via phosphorylation of Ser65 in its Ubl domain by PTEN-induced putative kinase 1 (PINK1) and an ubiquitin molecule phosphorylated at a position equivalent to Ser65 in parkin...
March 12, 2018: Journal of Biological Chemistry
Alice Biosa, Alvaro Sanchez-Martinez, Roberta Filograna, Ana Terriente-Felix, Sarah M Alam, Mariano Beltramini, Luigi Bubacco, Marco Bisaglia, Alexander J Whitworth
Reactive oxygen species exert important functions in regulating several cellular signalling pathways. However, an excessive accumulation of reactive oxygen species can perturb the redox homeostasis leading to oxidative stress, a condition which has been associated to many neurodegenerative disorders. Accordingly, alterations in the redox state of cells and mitochondrial homeostasis are established hallmarks in both familial and sporadic Parkinson's disease cases. PINK1 and parkin are two genes which account for a large fraction of autosomal recessive early-onset forms of Parkinson's disease and are now firmly associated to both mitochondria and redox homeostasis...
February 24, 2018: Human Molecular Genetics
Jeong-Min Hong, Sun-Mee Lee
AIMS: Heme oxygenase-1 (HO-1), an endogenous cytoprotective enzyme, is reported that can be localized in mitochondria under stress, contributing to preserve mitochondrial function. Mitochondrial quality control (QC) is essential to cellular health and recovery linked with redox homeostasis. Recent studies reported that phosphoglycerate mutase family member (PGAM) 5, a mitochondria-resident phosphatase, plays critical role in mitochondrial homeostasis. Therefore, we aim to investigate cytoprotective mechanisms of HO-1 in I/R-induced hepatic injury focusing on mitochondrial QC associated with PGAM5 signaling...
March 7, 2018: Life Sciences
Diana A Olszewska, Terri McVeigh, Emer M Fallon, Gregory M Pastores, Tim Lynch
Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions that may potentially have an underlying genetic basis, in the presence or absence of a family history...
March 9, 2018: Irish Journal of Medical Science
Josep Brocal, Steven De Decker, Roberto José-López, Julien Guevar, Maria Ortega, Tim Parkin, Gert Ter Haar, Rodrigo Gutierrez-Quintana
Congenital vertebral malformations (CVM) are common in brachycephalic 'screw-tailed' dogs; they can be associated with neurological deficits and a genetic predisposition has been suggested. The purpose of this study was to evaluate radiography as a screening method for congenital thoracic vertebral malformations in brachycephalic 'screw-tailed' dogs by comparing it with CT. Forty-nine dogs that had both radiographic and CT evaluations of the thoracic vertebral column were included. Three observers retrospectively reviewed the images independently to detect CVMs...
March 8, 2018: Veterinary Record
Nicola Parkin, Susan Furness, Anwar Shah, Bikram Thind, Zoe Marshman, Gillian Glenroy, Fiona Dyer, Philip E Benson
BACKGROUND: The permanent canine tooth in the maxillary (upper) jaw sometimes does not erupt into the mouth correctly. In about 1% to 3% of the population these teeth will be diverted into the roof of the mouth (palatally). It has been suggested that if the primary canine is removed at the right time this palatal eruption might be avoided. This is an update of a Cochrane review first published in 2009. OBJECTIVES: To evaluate the effect of extracting the primary maxillary canine on the eruption of the palatally ectopic maxillary permanent canine...
March 8, 2018: Cochrane Database of Systematic Reviews
Flávia R G Carneiro, Alice Lepelley, John J Seeley, Matthew S Hayden, Sankar Ghosh
ECSIT is a mitochondrial complex I (CI)-associated protein that has been shown to regulate the production of mitochondrial reactive oxygen species (mROS) following engagement of Toll-like receptors (TLRs). We have generated an Ecsit conditional knockout (CKO) mouse strain to study the in vivo role of ECSIT. ECSIT deletion results in profound alteration of macrophage metabolism, leading to a striking shift to reliance on glycolysis, complete disruption of CI activity, and loss of the CI holoenzyme and multiple subassemblies...
March 6, 2018: Cell Reports
Cameron J Parkin, Kenneth Buxey, Catriona A McLean
No abstract text is available yet for this article.
March 6, 2018: ANZ Journal of Surgery
Julia Silver, Colleen Caleshu, Sylvie Casson-Parkin, Kelly Ormond
Genetic counselors experience high rates of compassion fatigue and an elevated risk for burnout, both of which can negatively impact patient care and retention in the profession. In other healthcare professions, mindfulness training has been successfully used to address similar negative psychological sequelae and to bolster empathy, which is the foundation of our counseling work. We aimed to assess associations between mindfulness and key professional variables, including burnout, compassion fatigue, work engagement, and empathy...
March 4, 2018: Journal of Genetic Counseling
Ingrid González-Casacuberta, Constanza Morén, Diana-Luz Juárez-Flores, Anna Esteve-Codina, Cristina Sierra, Marc Catalán-García, Mariona Guitart-Mampel, Ester Tobías, José César Milisenda, Claustre Pont-Sunyer, María José Martí, Francesc Cardellach, Eduard Tolosa, Rafael Artuch, Mario Ezquerra, Rubén Fernández-Santiago, Glòria Garrabou
Mutations in the parkin gene (PRKN) are the most common cause of autosomal-recessive juvenile Parkinson's disease (PD). PRKN encodes an E3 ubiquitin ligase that is involved in multiple regulatory functions including proteasomal-mediated protein turnover, mitochondrial function, mitophagy, and cell survival. However, the precise molecular events mediated by PRKN mutations in PRKN-associated PD (PRKN-PD) remain unknown. To elucidate the cellular impact of parkin mutations, we performed an RNA sequencing study in skin fibroblasts from PRKN-PD patients carrying different PRKN mutations (n = 4) and genetically unrelated healthy subjects (n = 4)...
February 7, 2018: Neurobiology of Aging
Chen Cui, Jingting Qiao, Li Qing, Lingshu Wang, Tianyi He, Chuan Wang, Fuqiang Liu, Lei Gong, Li Chen, Xinguo Hou
Mitochondria play an important role in cellular metabolism and are closely related with metabolic stress. Recently, several studies have shown that mitophagy mediated by PTEN-induced putative kinase 1 (PINK1) and Parkin may play a critical role in clearing the damaged mitochondria and maintaining the overall balance of intracellular mitochondria in quality and quantity. A previous study showed that PINK1 and Parkin were overexpressed in adipose tissue in obese subjects. However, it is still unclear whether a direct relationship exists between obesity and mitophagy...
February 28, 2018: Biochemical and Biophysical Research Communications
Juliette J Lee, Alvaro Sanchez-Martinez, Aitor Martinez Zarate, Cristiane Benincá, Ugo Mayor, Michael J Clague, Alexander J Whitworth
The Parkinson's disease factors PINK1 and parkin are strongly implicated in stress-induced mitophagy in vitro, but little is known about their impact on basal mitophagy in vivo. We generated transgenic Drosophila melanogaster expressing fluorescent mitophagy reporters to evaluate the impact of Pink1/parkin mutations on basal mitophagy under physiological conditions. We find that mitophagy is readily detectable and abundant in many tissues, including Parkinson's disease-relevant dopaminergic neurons. However, we did not detect mitolysosomes in flight muscle...
March 2, 2018: Journal of Cell Biology
Juliana Cackovic, Susana Gutierrez-Luke, Gerald B Call, Amber Juba, Stephanie O'Brien, Charles H Jun, Lori M Buhlman
Selective degeneration of substantia nigra dopaminergic (DA) neurons is a hallmark pathology of familial Parkinson's disease (PD). While the mechanism of degeneration is elusive, abnormalities in mitochondrial function and turnover are strongly implicated. An Autosomal Recessive-Juvenile Parkinsonism (AR-JP) Drosophila melanogaster model exhibits DA neurodegeneration as well as aberrant mitochondrial dynamics and function. Disruptions in mitophagy have been observed in parkin loss-of-function models, and changes in mitochondrial respiration have been reported in patient fibroblasts...
2018: Frontiers in Cellular Neuroscience
Sarah E Shires, Åsa B Gustafsson
No abstract text is available yet for this article.
March 2, 2018: Circulation Research
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"