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12 results on '"Sanderson, Leslie E."'

1. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Author

Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., and Barakat, Tahsin Stefan

Published
2023
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3. Blocking fatty acid-fueled mROS production within macrophages alleviates acute gouty inflammation

Author

Hall, Christopher J., Sanderson, Leslie E., Lawrence, Lisa M., Pool, Bregina, van der Kroef, Maarten, Ashimbayeva, Elina, Britto, Denver, Harper, Jacquie L., Lieschke, Graham J., Astin, Jonathan W., Crosier, Kathryn E., Dalbeth, Nicola, and Crosier, Philip S.

Subjects
Gout -- Risk factors -- Genetic aspects -- Research, Reactive oxygen species -- Research, Health care industry
Abstract

Gout is the most common inflammatory arthritis affecting men. Acute gouty inflammation is triggered by monosodium urate (MSU) crystal deposition in and around joints that activates macrophages into a proinflammatory state, resulting in neutrophil recruitment. A complete understanding of how MSU crystals activate macrophages in vivo has been difficult because of limitations of live imaging this process in traditional animal models. By live imaging the macrophage and neutrophil response to MSU crystals within an intact host (larval zebrafish), we reveal that macrophage activation requires mitochondrial ROS (mROS) generated through fatty acid oxidation. This mitochondrial source of ROS contributes to NF-[kappa]B-driven production of IL-1[beta] and TNF-[alpha], which promote neutrophil recruitment. We demonstrate the therapeutic utility of this discovery by showing that this mechanism is conserved in human macrophages and, via pharmacologic blockade, that it contributes to neutrophil recruitment in a mouse model of acute gouty inflammation. To our knowledge, this study is the first to uncover an immunometabolic mechanism of macrophage activation that operates during acute gouty inflammation. Targeting this pathway holds promise in the management of gout and, potentially, other macrophage-driven diseases., Introduction Gout, the most common inflammatory arthritis in men (1), is a prototypic acute sterile inflammatory disease. Hyperuricemia leading to monosodium urate (MSU) crystal deposition triggers recurrent attacks of acute [...]

Published
2018
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5. Engineered Wnt ligands enable blood-brain barrier repair in neurological disorders

Author

Martin, Maud, primary, Vermeiren, Simon, additional, Bostaille, Naguissa, additional, Eubelen, Marie, additional, Spitzer, Daniel, additional, Vermeersch, Marjorie, additional, Profaci, Caterina P., additional, Pozuelo, Elisa, additional, Toussay, Xavier, additional, Raman-Nair, Joanna, additional, Tebabi, Patricia, additional, America, Michelle, additional, De Groote, Aurélie, additional, Sanderson, Leslie E., additional, Cabochette, Pauline, additional, Germano, Raoul F. V., additional, Torres, David, additional, Boutry, Sébastien, additional, de Kerchove d’Exaerde, Alban, additional, Bellefroid, Eric J., additional, Phoenix, Timothy N., additional, Devraj, Kavi, additional, Lacoste, Baptiste, additional, Daneman, Richard, additional, Liebner, Stefan, additional, and Vanhollebeke, Benoit, additional

Published
2022
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7. The multicellular interplay of microglia in health and disease: lessons from leukodystrophy

Author

Berdowski, Woutje M., Sanderson, Leslie E., and van Ham, Tjakko J.

Subjects
0301 basic medicine, leukodystrophy, Neurodegenerative Disorders, Central nervous system, Neuroscience (miscellaneous), microglia, oligodendrocytes, Medicine (miscellaneous), Review, Disease, Biology, General Biochemistry, Genetics and Molecular Biology, White matter, 03 medical and health sciences, Myelin, Rare Diseases, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Immunology and Microbiology (miscellaneous), genetic disease, Zebrafish as a Disease Model, Pathology, medicine, Animals, Humans, RB1-214, Zebrafish, Myelin Sheath, Microglia, Leukodystrophy, astrocytes, myelination, Neurodegenerative Diseases, medicine.disease, biology.organism_classification, White Matter, 3. Good health, Multicellular organism, 030104 developmental biology, medicine.anatomical_structure, Medicine, Neuroscience, 030217 neurology & neurosurgery
Abstract

Microglia are highly dynamic cells crucial for developing and maintaining lifelong brain function and health through their many interactions with essentially all cellular components of the central nervous system. The frequent connection of microglia to leukodystrophies, genetic disorders of the white matter, has highlighted their involvement in the maintenance of white matter integrity. However, the mechanisms that underlie their putative roles in these processes remain largely uncharacterized. Microglia have also been gaining attention as possible therapeutic targets for many neurological conditions, increasing the demand to understand their broad spectrum of functions and the impact of their dysregulation. In this Review, we compare the pathological features of two groups of genetic leukodystrophies: those in which microglial dysfunction holds a central role, termed ‘microgliopathies’, and those in which lysosomal or peroxisomal defects are considered to be the primary driver. The latter are suspected to have notable microglia involvement, as some affected individuals benefit from microglia-replenishing therapy. Based on overlapping pathology, we discuss multiple ways through which aberrant microglia could lead to white matter defects and brain dysfunction. We propose that the study of leukodystrophies, and their extensively multicellular pathology, will benefit from complementing analyses of human patient material with the examination of cellular dynamics in vivo using animal models, such as zebrafish. Together, this will yield important insight into the cell biological mechanisms of microglial impact in the central nervous system, particularly in the development and maintenance of myelin, that will facilitate the development of new, and refinement of existing, therapeutic options for a range of brain diseases., Summary: Microglia abnormalities are increasingly linked to white matter diseases. Complementing analyses of leukodystrophy patient material with animal models yields insight into the impact and therapeutic potential of microglia across diverse brain disorders.

Published
2021

8. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Author

Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, Van Der Linde, Herma C., Nikoncuk, Anita, Kühn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., Alahmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, Alhargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, Albakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, Van Ham, Tjakko J., Kaya, Namik, Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, Van Der Linde, Herma C., Nikoncuk, Anita, Kühn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., Alahmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, Alhargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, Albakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, Van Ham, Tjakko J., and Kaya, Namik

Abstract

Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41. The HOPS-specific subunit VPS41 has been reported to promote viability of dopaminergic neurons in Parkinson's disease but to date has not been linked to human disease. Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.

Published
2021

9. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Author

Sanderson, Leslie E, primary, Lanko, Kristina, additional, Alsagob, Maysoon, additional, Almass, Rawan, additional, Al-Ahmadi, Nada, additional, Najafi, Maryam, additional, Al-Muhaizea, Mohammad A, additional, Alzaidan, Hamad, additional, AlDhalaan, Hesham, additional, Perenthaler, Elena, additional, van der Linde, Herma C, additional, Nikoncuk, Anita, additional, Kühn, Nikolas A, additional, Antony, Dinu, additional, Owaidah, Tarek Mustafa, additional, Raskin, Salmo, additional, Vieira, Luana Gabriela Dalla Rosa, additional, Mombach, Romulo, additional, Ahangari, Najmeh, additional, Silveira, Tainá Regina Damaceno, additional, Ameziane, Najim, additional, Rolfs, Arndt, additional, Alharbi, Aljohara, additional, Sabbagh, Raghda M, additional, AlAhmadi, Khalid, additional, Alawam, Bashayer, additional, Ghebeh, Hazem, additional, AlHargan, Aljouhra, additional, Albader, Anoud A, additional, Binhumaid, Faisal S, additional, Goljan, Ewa, additional, Monies, Dorota, additional, Mustafa, Osama M, additional, Aldosary, Mazhor, additional, AlBakheet, Albandary, additional, Alyounes, Banan, additional, Almutairi, Faten, additional, Al-Odaib, Ali, additional, Aksoy, Durdane Bekar, additional, Basak, A Nazli, additional, Palvadeau, Robin, additional, Trabzuni, Daniah, additional, Rosenfeld, Jill A, additional, Karimiani, Ehsan Ghayoor, additional, Meyer, Brian F, additional, Karakas, Bedri, additional, Al-Mohanna, Futwan, additional, Arold, Stefan T, additional, Colak, Dilek, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Bertoli-Avella, Aida M, additional, Schmidts, Miriam, additional, Barakat, Tahsin Stefan, additional, van Ham, Tjakko J, additional, and Kaya, Namik, additional

Published
2021
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10. Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy.

Author

Gonzalez, Carlos Dominguez, Sanderson, Leslie E., Depace, Raffaella, Helman, Guy, Wu, Kaiyuan, Disanza, Brianna, Pizzino, Amy, Schmidt, Johanna, Muirhead, Kayla, Bonkowsky, Joshua, Taft, Ryan, Sannaa, Nouriya, Dias, Patrícia, Mutlu, Mehmet Burak, Bertoli-Avella, Aida M., Maroofian, Reza, Barakat, Tahsin Stefan, Bhoj, Elizabeth, Ahrens-Nicklas, Rebecca, and Simons, Cas

Subjects
*LEUKODYSTROPHY, *BRAIN diseases, *PEOPLE with epilepsy
Published
2024
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