Results 71 to 80 of about 132,321 (210)

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Proteolipid Protein Is Required for Transport of Sirtuin 2 into CNS Myelin [PDF]

, 2007
Mice lacking the expression of proteolipid protein (PLP)/DM20 in oligodendrocytes provide a genuine model for spastic paraplegia (SPG-2). Their axons are well myelinated but exhibit impaired axonal transport and progressive degeneration, which is ...
Shen, S., Nave, Klaus-Armin, Orfaniotou, Foteini, Möbius, W., Dhaunchak, A., Werner, Hauke B., Brinkmann, Bastian G., Orfaniotou, F., Guarente, L., Casaccia-Bonnefil, Patrizia, Uecker, M., Kuhlmann, K., Shen, Siming, Dimova, K., Brinkmann, B., Uecker, Marina, Möbius, Wiebke, Casaccia-Bonnefil, P., Werner, H., Nave, K., Dimova, Kalina, Kuhlmann, Katja, Guarente, Lenny, Schardt, Anke, Schardt, A., Dhaunchak, Ajit, Jahn, Olaf, Jahn, O.   +27 more
core   +1 more source

Myelin-associated proteins are potential diagnostic markers in patients with primary brain tumour

, 2021
Taking into account the possibility of myelin-associated proteins having a role in brain tumour development, the study aimed to evaluate the diagnostic usefulness of myelin-associated proteins (Nogo-A, MAG, OMgp) released into extracellular space in ...
Ewa Matuszczak (4821702), Olga M. Koper-Lenkiewicz (11602751), Mariusz W. Mucha (11602769), Karol Sawicki (11602757), Joanna Matowicka-Karna (9344574), Violetta Dymicka-Piekarska (9344568), Robert Pawlak (400743), Joanna Reszeć (9344565), Marzena Tylicka (4821696), Anna J. Milewska (11602754), Joanna Kamińska (8886032), Justyna Zińczuk (11602763), Robert Chrzanowski (11602760), Zenon Mariak (11602766)   +13 more
core   +1 more source

Alzheimer disease pathology and the cerebrospinal fluid proteome

Alzheimer’s Research & Therapy, 2018
Background Altered proteome profiles have been reported in both postmortem brain tissues and body fluids of subjects with Alzheimer disease (AD), but their broad relationships with AD pathology, amyloid pathology, and tau-related neurodegeneration have ...
Loïc Dayon, Antonio Núñez Galindo, Jérôme Wojcik, Ornella Cominetti, John Corthésy, Aikaterini Oikonomidi, Hugues Henry, Martin Kussmann, Eugenia Migliavacca, India Severin, Gene L. Bowman, Julius Popp   +11 more
doaj   +1 more source

Olfactory proteomics reveals the capacity of the HDAC1 inhibitor pyroxamide to halt the α‐synuclein preformed fibrils‐induced damage in nasal epithelial, microglial and dopaminergic neuronal cell lines

Brain Pathology, EarlyView.
Omics‐driven drug repositioning reveals pyroxamide as a neuroprotective HDAC1 inhibitor in Parkinson's disease models. Abstract Parkinson's disease (PD) is the second most common neurodegenerative disorder mainly characterized by the degeneration of dopaminergic neurons originating in the substantia nigra (SN) pars compacta and projecting to other ...
Paz Cartas‐Cejudo, Marina De Miguel, Leire Extramiana, Mercedes Lachén‐Montes, Silvia Romero‐Murillo, Djordje Gveric, Joaquín Fernández‐Irigoyen, Enrique Santamaría   +7 more
wiley   +1 more source

Identifying regulatory muscle processes in infantile and adult Pompe patients using a multi‐omic and morphological approach

Brain Pathology, EarlyView.
The study highlights differences in the regulatory processes of skeletal muscle, such as sarcomeric contractility, lysosomal and autophagic function, metabolic activity and immune regulation, at transcriptomic and proteomic levels in infantile and adult Pompe disease.
Alexander Schaiter, Keerthika Lohanadan, Alexander Mensch, Andreas Hentschel, Angela Rosenbohm, Cornelia Kornblum, Angela Roth, Tara Procida‐Kowalski, Heidrun H. Krämer, Andreas Hahn, Jörg Höhfeld, Dieter O. Fürst, Werner Stenzel, Peter F. M. van der Ven, Andreas Roos, Marek Bartkuhn, Anne Schänzer   +16 more
wiley   +1 more source

Identification of a septin filament required for CNS myelin integrity [PDF]

, 2013
Axonal integrity and longevity require functionally intact myelin, as demonstrated by the deletion of myelin-specific genes in mice. To identify molecules that contribute to the structural organization of CNS myelin, its protein content was ...
Patzig, J., Patzig, Julia, Stegmüller, Judith, Wouters, Fred, Georg-August-Universität Göttingen, Nave, Klaus-Armin, null null, Julia Patzig   +7 more
core   +1 more source

The Role of Oxidative Stress in Periodontitis

Journal of Periodontal Research, EarlyView.
Oxidative stress is involved in multiple chemical reactions that take place in different intracellular organelles: mitochondria, rough endoplasmic reticulum, peroxisomes, autophagy, and aging, and can be influenced by exogenous factors: nutrition, physical activity, psychological status, environmental conditions, microbiome, and drugs.
Pedro Bullon, Francesca Giampieri, Beatriz Bullon, Maurizio Battino   +3 more
wiley   +1 more source

Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models

Frontiers in Cell and Developmental Biology, 2020
Disease modeling requires appropriate cellular models that best mimic the underlying pathophysiology. Human origin and an adequate expression of the disease protein are pre-requisites that support information from a model to be meaningful.
Stefan Hauser, Stefan Hauser, Stefanie Schuster, Stefanie Schuster, Stefanie Schuster, Elena Heuten, Philip Höflinger, Philip Höflinger, Philip Höflinger, Jakob Admard, Yvonne Schelling, Yvonne Schelling, Ana Velic, Boris Macek, Stephan Ossowski, Stephan Ossowski, Ludger Schöls, Ludger Schöls, Ludger Schöls   +18 more
doaj   +1 more source

Understanding extracellular vesicles in antiaging

Periodontology 2000, EarlyView.
Abstract Background Aging is a multifactorial process marked by gradual cellular dysregulation, regulated by hallmarks, including genomic instability, mitochondrial dysregulation, and chronic inflammation. Extracellular vesicles (EVs), especially exosomes, have emerged as pivotal mediators of cell‐to‐cell communication with potential roles in both ...
Paras Ahmad, Nathan E. Estrin, Anton Sculean, Richard J. Miron   +3 more
wiley   +1 more source