Výsledky vyhledávání - "James J. Doyle"

Akademický článek

Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditis elegans model of spinal muscular atrophy

Autor: James J. Doyle, Celine Vrancx, Claudia Maios, Audrey Labarre, Shunmoogum A. Patten, J. Alex Parker

Publikováno v: Disease Models & Mechanisms, Vol 13, Iss 12 (2020)

Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease resulting in muscle atrophy and neurodegeneration, and is the leading genetic cause of infant death. SMA arises when there are homozygous deletion mutations in t

Externí odkaz: https://doaj.org/article/351f869cff464f608dc1c8fa6a044ccb

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TMEM106B, an unexpected point of contact between FTD, ageing and a hypomyelination disorder

Autor: Andrew Bateman, James J Doyle, J. Alex Parker

Publikováno v: Brain. 143:1628-1631

This scientific commentary refers to ‘Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies’, by Zhou et al. (doi:10.1093/brain/awaa141).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::16b24d6a7165f27be9b483cc28e75b4a
https://doi.org/10.1093/brain/awaa149

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Reviewing the Outcomes of Different Treatment Approaches in Elderly Pancreatic Cancer Patients

Autor: Chandni Raiyani, Tyson Amundsen, Lucas Wong, James A. Hall, James J. Doyle

Publikováno v: Pancreas. 50(7)

The incidence of pancreatic cancer is age dependent. Ninety percent of new diagnoses occur in patients older than 55 years. Despite the association with age and cancer, elderly patients are historically underrepresented in clinical trials. Thus, opti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2d65f1e585df232dffd89e4c9afe0a2
https://pubmed.ncbi.nlm.nih.gov/34629453

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Chemical and genetic rescue of in vivo progranulin-deficient lysosomal and autophagic defects

Autor: Hugh P.J. Bennett, Sarah Duhaime, Celine Vrancx, James J Doyle, Claudia Maios, Babykumari P Chitramuthu, J. Alex Parker, Andrew Bateman

Publikováno v: Proc Natl Acad Sci U S A

In 2006, GRN mutations were first linked to frontotemporal dementia (FTD), the leading cause of non-Alzheimer dementias. While much research has been dedicated to understanding the genetic causes of the disease, our understanding of the mechanistic i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0981699ed71579745f4b221d15f4c3b5
https://doi.org/10.1073/pnas.2022115118

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An olfactory neuroblastoma presenting as posterior reversible leukoencephalopathy syndrome

Autor: Yasmeen Hashimie, James J. Doyle, Austin Metting

Publikováno v: Proc (Bayl Univ Med Cent)

Olfactory neuroblastomas are rare malignancies of the nasal and sinus cavities. They have been associated with paraneoplastic syndromes due to secretion of adrenocorticotropin hormone (ACTH) or antidiuretic hormone. These associated paraneoplastic sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc9f311ffc15e341fb8febb322897f9e
https://doi.org/10.1080/08998280.2021.1953878

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Hemophagocytic lymphohistiocytosis due to pembrolizumab therapy for adenocarcinoma of the lung

Autor: Jyothi Dodlapati, Kelsey Reely, James J. Doyle, James A. Hall

Publikováno v: Proc (Bayl Univ Med Cent)

Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of dysregulated inflammation. It is most commonly seen in children who have a predisposing genetic mutation. However, adults can contract an acquired version of the disorder secondary to an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2299d7297e024915f7c59563fa0bd95
https://doi.org/10.1080/08998280.2021.1945353

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Modulating the ER stress response attenuates neurodegeneration in a C. elegans model of spinal muscular atrophy

Autor: Claudia Maios, James J Doyle, Audrey Labarre, Celine Vrancx, J. Alex Parker, Shunmoogum A. Patten

Publikováno v: Disease Models & Mechanisms.

Spinal muscular atrophy is (SMA) is a devastating, autosomal recessive neuromuscular disease resulting in muscle atrophy, neurodegeneration, and is the leading genetic cause of infant death. SMA arises when there are homozygous deletion mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2735f570be09702ada932a8278f9575f
https://doi.org/10.1242/dmm.041350

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Methods to Investigate the Molecular Basis of Progranulin Action on Neurons In Vivo Using Caenorhabditis elegans

Autor: James J Doyle, J. Alex Parker

Publikováno v: Methods in Molecular Biology ISBN: 9781493985579

The C. elegans nematode is a powerful genetic tool for the study of aging, developmental biology, and neurodegenerative diseases. They are a small and simple model, but its well-known genome and presence of many human orthologs has made it an ideal m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::40703ed4ed49d62239c5938d68e2a0c8
https://doi.org/10.1007/978-1-4939-8559-3_13

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