Publications related to Wilson's disease

High field brain proton magnetic resonance spectroscopy and volumetry in children with chronic, compensated liver disease-A pilot study

Lijing Xin, Cristina Ramona Cudalbu, Bénédicte Marie Maréchal, Sarah Lachat

Background: There is increasing evidence that children or young adults having acquired liver disease in childhood display neurocognitive impairment which may become more apparent as they grow older. The molecular, cellular and morphological underpinnings o ...

ACADEMIC PRESS INC ELSEVIER SCIENCE2023

Probiotics improve the neurometabolic profile of rats with chronic cholestatic liver disease

Cristina Ramona Cudalbu, Jocelin Grosse, Veronika Rackayová, Emmanuelle Ines Flatt

Chronic liver disease leads to neuropsychiatric complications called hepatic encephalopathy (HE). Current treatments have some limitations in their efficacy and tolerability, emphasizing the need for alternative therapies. Modulation of gut bacterial flora ...

Nature Research2021

Fronto-Temporal Disconnection Within the Presence Hallucination Network in Psychotic Patients With Passivity Experiences

Olaf Blanke, Alessandra Griffa, Jevita Potheegadoo, Kim Do, Patric Hagmann, Nathan Quentin Faivre, Roy Salomon, Giulio Rognini, Eva Blondiaux, Giedre Stripeikyte, Pierre Progin

Psychosis, characterized by hallucinations and delusions, is a common feature of psychiatric disease, especially schizophrenia. One prominent theory posits that psychosis is driven by abnormal sensorimotor predictions leading to the misattribution of self- ...

2021

Differential roles of GDF15 and FGF21 in systemic metabolic adaptation to the mitochondrial integrated stress response

Johan Auwerx, Jun Yong Kim

Perturbation of mitochondrial proteostasis provokes cell autonomous and cell non-autonomous responses that contribute to homeostatic adaptation. Here, we demonstrate distinct metabolic effects of hepatic metabokines as cell non-autonomous factors in mice w ...

CELL PRESS2021

Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. "Alive, with good vision and no comorbidity"

Paul Joseph Dyson

Retinoblastoma is lethal by metastasis if left untreated, so the primary goal of therapy is to preserve life, with ocular survival, visual preservation and quality of life as secondary aims. Historically, enucleation was the first successful therapeutic ap ...

PERGAMON-ELSEVIER SCIENCE LTD2019

A Drosophila Model of Essential Tremor

Essential Tremor (ET) is one of the most common neurological diseases, with an estimated 7 million affected individuals in the US; the pathophysiology of the disorder is poorly understood. Recently, we identified a mutation (KCNS2 (Kv9.2), c.1137 T > A, p. ...

Nature Research2018

Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis

Didier Trono, Priscilla Turelli, Evaristo Jose Planet Letschert

BackgroundAmyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease involving loss of motor neurons and having no known cure and uncertain etiology. Several studies have drawn connections between altered retrotransposon expression and ALS. C ...

2018

The therapeutic role of NAD+ modulation in fatty liver disease

Karim Laurent Gariani

NAFLD encompasses a disease spectrum ranging from hepatic steatosis to nonalcoholic steatohepatitis (NASH), fibrosis, and finally cirrhosis, which predisposes to the development of hepatocellular carcinoma. With no approved pharmacological treatment, NAFLD ...

EPFL2017

(1)H and (31)P magnetic resonance spectroscopy in a rat model of chronic hepatic encephalopathy: in vivo longitudinal measurements of brain energy metabolism

Cristina Ramona Cudalbu, Bernard Lanz, Veronika Rackayová, Corina Mihaela Berset

Chronic liver disease (CLD) leads to a spectrum of neuropsychiatric disorders named hepatic encephalopathy (HE). Even though brain energy metabolism is believed to be altered in chronic HE, few studies have explored energy metabolism in CLD-induced HE, and ...

Springer Verlag2016

Another Shp on the Horizon for Bile Acids

Kristina Schoonjans, Alessia Perino

Bile acid metabolism is tightly controlled due to the toxic effects of bile acid overload. In this issue, research from the Feng lab reports Shp2 as a novel integrator of hepatic bile acid and FGF15/FGF19 signaling, adding another layer of complexity to th ...

Cell Press2014

Bioavailable copper modulates oxidative phosphorylation and growth of tumors

Johan Auwerx, Douglas Hanahan, Carole Poitry-Yamate, Pénélope Andreux, Seiko Ishida

Copper is an essential trace element, the imbalances of which are associated with various pathological conditions, including cancer, albeit via largely undefined molecular and cellular mechanisms. Here we provide evidence that levels of bioavailable copper ...

National Academy of Sciences2013

The Receptor TGR5 Protects the Liver From Bile Acid Overload During Liver Regeneration in Mice

Kristina Schoonjans

Many regulatory pathways are involved in liver regeneration after partial hepatectomy (PH) to initiate growth, protect liver cells, and sustain functions of the remnant liver. Bile acids (BAs), whose levels rise in the blood early after PH, stimulate both ...

Wiley-Blackwell2013

Targeting receptor activator of nuclear factor-kappa B as a new therapy for bone metastasis in non-small cell lung cancer

Etienne Meylan

Purpose of review The review aims at comprehensively discussing our current knowledge on bone metastases incidence in non-small cell lung cancer (NSCLC), their related complications as well as clinical impact in patients suffering from advanced disease. Re ...

Lippincott Williams & Wilkins2013

In Vivo Studies on the Control of Gene Expression and Protein Degradation

Karolina Bojkowska

Cellular homeostasis is maintained by tightly regulated gene networks, controlled notably at the levels of transcription, mRNA processing, and protein post-translational modification and turnover. This thesis focuses on two of these regulatory steps, namel ...

EPFL2011

Alpha-Synuclein Effects at the ER-to-Golgi Level and Potential Biomarkers in Rat Models of the Early Phase of Parkinson's Disease

Philippe Guillaume Coune

While Parkinson's disease has been described nearly 200 years ago, the mechanisms leading to the degeneration of selectively vulnerable populations of neurons, such as dopaminergic neurons in the substantia nigra, remain mostly unknown. Our poor understand ...

EPFL2011

The copper chelator d-penicillamine delays onset of disease and extends survival in a transgenic mouse model of familial amyotrophic lateral sclerosis

Patrick Aebischer, Eric Garrison Fine

A subpopulation of familial cases of amyotrophic lateral sclerosis has been linked to mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1). There is in vitro evidence that certain SOD1 mutants, in addition to their normal dismutation function, ...

1997