Results 61 to 70 of about 116,955 (355)

Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease [PDF]

, 2015
Protein aggregation and oxidative stress are both key pathogenic processes in Parkinson's disease, although the mechanism by which misfolded proteins induce oxidative stress and neuronal death remains unknown.
Andrey Y. Abramov, Blerida Banushi, Christopher M. Dobson, Daniel Little, David Klenerman, Dias V, Emma Deas, Marthe H.R. Ludtmann, Mathew H. Horrocks, Michael J. Devine, Nicholas W. Wood, Nunilo Cremades, Paul Gissen, Plamena R. Angelova, Serene Chen, Sonia Gandhi, Zhi Yao   +16 more
core   +5 more sources

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Pathological progression induced by the frontotemporal dementia-associated R406W tau mutation in patient-derived iPSCs [PDF]

, 2019
Mutations in the microtubule-associated protein tau (MAPT) gene are known to cause familial frontotemporal dementia (FTD). The R406W tau mutation is a unique missense mutation whose patients have been reported to exhibit Alzheimer\u27s disease (AD)-like ...
et al,, Karch, Celeste M, Nakamura, Mari
core   +1 more source

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

Endogenous tagging using split mNeonGreen in human iPSCs for live imaging studies

eLife
Endogenous tags have become invaluable tools to visualize and study native proteins in live cells. However, generating human cell lines carrying endogenous tags is difficult due to the low efficiency of homology-directed repair.
Mathieu C Husser, Nhat P Pham, Chris Law, Flavia RB Araujo, Vincent JJ Martin, Alisa Piekny   +5 more
doaj   +1 more source

Membrane resonance enables stable and robust gamma oscillations [PDF]

, 2012
Neuronal mechanisms underlying beta/gamma oscillations (20-80 Hz) are not completely understood. Here, we show that in vivo beta/gamma oscillations in the cat visual cortex sometimes exhibit remarkably stable frequency even when inputs fluctuate ...
Moca, Vasile V., Mureşan, Raul C., Nikolić, Danko, Singer, Wolf   +3 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Generation of induced pluripotent stem cell (iPSC) line from a patient with triple negative breast cancer with hereditary exon 17 deletion of BRCA1 gene

Stem Cell Research, 2017
BRCA1 germline mutation confers hereditary predisposition for breast and ovarian cancer. To understand the physiopathology of mammary and ovarian epithelial cancer transformation, and to identify early driver molecular events, we have generated an iPSC ...
Frank Griscelli, Noufissa Oudrhiri, Olivier Feraud, Dominique Divers, Lucie Portier, Ali G. Turhan, Annelise Bennaceur Griscelli   +6 more
doaj   +1 more source

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. [PDF]

, 2019
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Barthélémy, Florian, Douine, Emilie D, Hsu, Christopher, Marcantonio, Eugene E, Miceli, M Carrie, Nelson, Stanley F, Wang, Richard T   +6 more
core   +1 more source

iPSCs to the Rescue in Alzheimer's Research [PDF]

Cell Stem Cell, 2012
A crucial limitation to our understanding of Alzheimer's disease has been the inability to test hypotheses on live, patient-specific neurons. A recent study in Nature by Israel et al. (2012) reports that iPSC-derived neurons from AD patients recapitulate multiple aspects of disease pathology.
Choi, Se Hoon, Tanzi, Rudolph E.
openaire   +2 more sources