Concept

Huntingtine

Publications associées (53)

Synchrotron Infrared Microspectroscopy Detecting the Evolution of Huntington's Disease Neuropathology and Suggesting Unique Correlates of Dysfunction in White versus Gray Brain Matter

László Forró, Sylvia Jeney, Heike Runne, Markus Bonda

Huntington's disease (HD), caused by a mutation of the corresponding gene encoding the protein huntingtin (htt), is characterized by progressive deterioration of cognitive and motor functions, paralleled by extensive loss of striatal neurons. At the cellul ...

2011

Diminished activity-dependent brain-derived neurotrophic factor expression underlies cortical neuron microcircuit hypoconnectivity resulting from exposure to mutant huntingtin fragments

Henry Markram, Michele Giugliano, Elena Katsyuba, Ozgün Gökce, Heike Runne, Luca Gambazzi

Although previous studies of Huntington's disease (HD) have addressed many potential mechanisms of striatal neuron dysfunction and death, it is also known, based on clinical findings, that cortical function is dramatically disrupted in HD. With respect to ...

American Society for Pharmacology and Experimental Therapeutics2010

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

Purpose: To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, a ...

2010

Sustained Effects of Nonallele-Specific Huntingtin Silencing

Nicole Déglon

Objective: Huntington's disease (HD) is a fatal autosomal dominant neurodegenerative disorder caused by a polyglutamine expansion in the huntingtin (htt) protein. No cure is available to date to alleviate neurodegeneration. Recent studies have demonstrated ...

Wiley-Blackwell2009

Effects of BDNF and other neuroprotectants on the neuropathology of Huntington's disease

Ozgün Gökce

Huntington's disease is an autosomal dominantly inherited neurodegenerative disorder characterized by progressive motor dysfunction, dementia, psychiatric symptoms, and weight loss, eventually leading to death. Postmortem analysis of the brains of HD patie ...

EPFL2009

Implication of the JNK pathway in a rat model of Huntington's disease

Patrick Aebischer

Huntington's disease (HD) is a neurodegenerative disorder resulting from the expansion of a glutamine repeat (polyQ) in the N-terminus of the huntingtin (htt) protein. Expression of polyQ-containing proteins has been previously shown to induce various cell ...

2009

Diminished hippocalcin expression in Huntington's disease brain does not account for increased striatal neuron vulnerability as assessed in primary neurons

Ozgün Gökce, Nikita Rudinskiy, Nicole Déglon

Hippocalcin is a neuronal calcium sensor protein previously implicated in regulating neuronal viability and plasticity. Hippocalcin is the most highly expressed neuronal calcium sensor in the medium spiny striatal output neurons that degenerate selectively ...

Wiley-Blackwell2009

Transcriptional dysregulation in Huntington's disease

Heike Runne

Huntington's disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance. It is caused by a singular mutation in exon 1 of the HD gene encoding an abnormal polyglutamine (polyQ) expansion in the N-terminal region of the hun ...

EPFL2008

Haloperidol protects striatal neurons from dysfunction induced by mutated huntingtin in vivo

Nicole Déglon

Huntington's disease (HD) results from an abnormal polyglutamine extension in the N-terminal region of the huntingtin protein. This mutation causes preferential degeneration of striatal projection neurons. We previously demonstrated, in vitro, that dopamin ...

Elsevier2008

Dysregulation of gene expression in primary neuron models of Huntington's disease shows that polyglutamine-related effects on the striatal transcriptome may not be dependent on brain circuitry

Patrick Aebischer, Ozgün Gökce, Heike Runne, Nicole Déglon, Diana Zala

Gene expression changes are a hallmark of the neuropathology of Huntington's disease (HD), but the exact molecular mechanisms of this effect remain uncertain. Here, we report that in vitro models of disease comprised of primary striatal neurons expressing ...

2008

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