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Retinal regions shape human and murine Müller cell proteome profile and functionality.
Lew Kaplan, Corinne Drexler, Anna M Pfaller, Santra Brenna, Kirsten A Wunderlich, Andrea Dimitracopoulos, Juliane Merl-Pham, Maria-Theresa Perez, Ursula Schlötzer-Schrehardt, Volker Enzmann, Marijana Samardzija, Berta Puig, Peter Fuchs, Kristian Franze, Stefanie M Hauck, Antje Grosche
Nov 05, 2022
The human macula is a highly specialized retinal region with pit-like morphology and rich in cones. How Müller cells, the principal glial cell type in the retina, are adapted to this environment is still poorly understood. We...
The Trope of Silence in the Work of Herta Müller
P Shopin
Aug 09, 2017
With reference to Herta Müller’s fiction and non-fiction, my essay explores how the trope of silence is engaged to make sense of more abstract concepts. Drawing on conceptual metaphor theory, I argue that Müller uses silence as...
Language as a force for good in the work of Herta Müller
P Shopin
Oct 02, 2017
Herta Müller creates sophisticated metaphors to convey her vision of language and its relationship to suffering and subjugation. With reference to both her fiction and non‐fiction, this essay explores how she uses the idea of...
Endoplasmic Reticulum Lumenal Indicators in Drosophila Reveal Effects of HSP-Related Mutations on Endoplasmic Reticulum Calcium Dynamics
Megan K. Oliva, Juan José Pérez-Moreno, Jillian O’Shaughnessy, Trevor J. Wardill, Cahir J. O’Kane
Aug 24, 2020
Genes for endoplasmic reticulum (ER)-shaping proteins are among the most commonly mutated in hereditary spastic paraplegia (HSP). Mutation of these genes in model organisms can lead to disruption of the ER network. To...
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48)
Marianthi Breza, Jennifer Hirst, Viorica Chelban, Guillaume Banneau, Laurène Tissier, Bophara Kol, Thomas Bourinaris, Samia A Said, Yann Péréon, Anna Heinzmann, Rabab Debs, Raul Juntas-Morales, Victoria G Martinez, Jean P Camdessanche, Clarisse Scherer-Gagou, Jean-Médard Zola, Alkyoni Athanasiou-Fragkouli, Stephanie Efthymiou, George Vavougios, Georgios Velonakis, Maria Stamelou, John Tzartos, Constantin Potagas, Thomas Zambelis, Caterina Mariotti, Craig Blackstone, Jana Vandrovcova, Theodoros Mavridis, Chrisoula Kartanou, Leonidas Stefanis, Nicholas Wood, Georgia Karadima, Eric LeGuern, Georgios Koutsis, Henry Houlden, Giovanni Stevanin
Jan 06, 2021
Biallelic mutations in AP5Z1 are known to cause a rare, autosomal recessive, complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647)[1]. To date, only 11 SPG48 cases have been reported. The clinical...
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Patrick Chinnery, Huw Morris, Raquel Real, Victoria Harrison, Evan Reid, Nicholas Wood, Genomics England Research Consortium, Jana Vandrovcova, Henry Houlden, Arianna Tucci
Sep 15, 2021
Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes...
Hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The pathogenic mechanism, associated clinical features, and...
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Patrick Chinnery, Huw Morris, Raquel Real, Victoria Harrison, Evan Reid, Nicholas Wood, Jana Vandrovcova, Henry Houlden, Arianna Tucci
Dec 01, 2020
Abstract: Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000...
IL-33 deficiency causes persistent inflammation and severe neurodegeneration in retinal detachment.
Josy Augustine, Sofia Pavlou, Imran Ali, Kevin Harkin, Ema Ozaki, Matthew Campbell, Alan W Stitt, Heping Xu, Mei Chen
Jan 20, 2020
BACKGROUND: Interleukin-33 (IL-33) belongs to the IL-1 cytokine family and resides in the nuclei of various cell types. In the neural retina, IL-33 is predominately expressed in Müller cells although its role in health and...
“Test-As-You-Go” for Hot Spots Policing
Abstract
Hot spots policing is rapidly changing its evidence-base. Instead of producing more results of one-off, conventional experiments that provide an evidence-base...
Lawrence W Sherman
Jul 07, 2022
HIF-1alpha and HIF-2alpha are differentially activated in distinct cell populations in retinal ischaemia.
Freya M Mowat, Ulrich FO Luhmann, Alexander J Smith, Clemens Lange, Yanai Duran, Sarah Harten, Deepa Shukla, Patrick H Maxwell, Robin R Ali, James WB Bainbridge
Mar 18, 2019
BACKGROUND: Hypoxia plays a key role in ischaemic and neovascular disorders of the retina. Cellular responses to oxygen are mediated by hypoxia-inducible transcription factors (HIFs) that are stabilised in hypoxia and induce the...
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).
Jennifer Hirst, Marianna Madeo, Katrien Smets, James R Edgar, Ludger Schols, Jun Li, Anna Yarrow, Tine Deconinck, Jonathan Baets, Elisabeth Van Aken, Jan De Bleecker, Manuel B Datiles, Ricardo H Roda, Joachim Liepert, Stephan Züchner, Caterina Mariotti, Peter De Jonghe, Craig Blackstone, Michael C Kruer
Dec 19, 2018
OBJECTIVE: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype-phenotype correlations...
Plasma heat shock protein response to euglycemia in type 2 diabetes.
Alexander S Atkin, Abu Saleh Md Moin, Ahmed Al-Qaissi, Thozhukat Sathyapalan, Stephen L Atkin, Alexandra E Butler
Apr 22, 2021
INTRODUCTION: Glucose variability is associated with mortality and macrovascular diabetes complications. The mechanisms through which glucose variability mediates tissue damage are not well understood, although cellular...
High-aluminum-affinity silica is a nanoparticle that seeds secondary aluminosilicate formation.
Despite the importance and abundance of aluminosilicates throughout our natural surroundings, their formation at neutral pH is, surprisingly, a matter of considerable debate. From our experiments in dilute aluminum and silica...
Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.
The hereditary spastic paraplegias (HSPs) are genetic motor neuron diseases characterized by progressive degeneration of corticospinal tract axons. Mutations in SPAST, encoding the microtubule-severing ATPase spastin, are the...
Genetic control of cellular morphogenesis in Müller glia.
Small-Molecule Activation of YAP for Inner-Ear Regeneration and Beyond
Nathaniel Kastan
Jan 01, 0001
Hippo signaling is an evolutionarily conserved pathway that restricts organ growth during development and suppresses regeneration in mature organs. Using a highthroughput phenotypic screen, we have identified a potent...
Published by: Rockefeller University
Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations.
This scientific commentary refers to ‘Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction’, by Van Lent et al. (doi:10.1093/brain/awab226).
Small Molecule Activation of Yap for Inner-Ear Regeneration and Beyond
Nathaniel Kastan
Jan 01, 0001
Hippo signaling is an evolutionarily conserved pathway that restricts organ growth during development and suppresses regeneration in mature organs. Using a highthroughput phenotypic screen, we have identified a potent...
Published by: Rockefeller University
Gedanken über die Religion: Der “stille” Krieg zwischen Schelling und Schleiermacher (1799–1807), by Ryan Scheerlinck, Stuttgart-Bad Cannstatt
Vicki Müller-Lüneschloß
Apr 05, 2022
The title of Scheerlinck’s study on the relationship between two of the most important thinkers of Romanticism, the philosopher F.W.J. Schelling and the theologian F.D.E. Schleiermacher, undoubtedly alludes to the latter’s main...
Published by: Memorial University Libraries
Comment on Late-Onset ADHD Reconsidered With Comprehensive Repeated Assessments Between Ages 10 and 25.
Attention Deficit Hyperactivity Disorder Diagnosis And Classification EPIDEMIOLOGY Adolescent Adult Age Factors Attention Deficit Disorder with Hyperactivity Child Diagnostic and Statistical Manual of Mental Disorders Humans Young Adult
Published by: Am J Psychiatry
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