Výsledky vyhledávání - "LSD, Lysosomal storage disorder"

LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease

Autor: Hoda Safari Yazd, Sina Feizbakhsh Bazargani, Christine A. Vanbeek, Kelli King-Morris, Coy Heldermon, Mark S. Segal, Richard Yost, William L. Clapp, Timothy J. Garrett

Publikováno v: Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 22, Iss, Pp 71-78 (2021)
Journal of Mass Spectrometry and Advances in the Clinical Lab

Highlights • Fabry is an X-linked lysosomal storage disease with deficiency in α-galactosidase. • This deficiency results in the accumulation of glycosphinogolipids. • Diagnosis is often made by analysis of globotriaosylceramide in fluids and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc601d022917c183c0e3e9b796fc894b
https://doi.org/10.1016/j.jmsacl.2021.11.004

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Bis(monoacylglycero)phosphate, an important actor in the host endocytic machinery hijacked by SARS-CoV-2 and related viruses

Autor: Françoise Hullin-Matsuda, Isabelle Delton, Céline Luquain-Costaz, Maxence Rabia

Publikováno v: Biochimie
Biochimie, Elsevier, 2020, 179, pp.247-256. ⟨10.1016/j.biochi.2020.10.018⟩

Viruses, including the novel coronavirus SARS-CoV-2, redirect infected cell metabolism to their own purposes. After binding to its receptor angiotensin-converting enzyme 2 (ACE2) on the cell surface, the SARS-CoV-2 is taken up by receptor-mediated en

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a68ea4cecc161cbc74e8d28bfc42a8
https://hal-univ-lyon1.archives-ouvertes.fr/hal-03039396

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A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase

Autor: Motomichi Kosuga, Kumiko Yanagi, Yasuyuki Fukuhara, Torayuki Okuyama, Narutoshi Yamazaki, Ai Miura, Takanori Yamagata, Tadashi Kaname, Hitoshi Sakuraba, Tetsumin So

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100692-(2020)

We previously showed that the genotype-phenotype correlation in MPS II is well-conserved in Japan (Kosuga et al., 2016). Almost all of our patients with attenuated MPS II have missense variants, which is expected to result in residual activity of idu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75ba4e524d1be60fa0f19975997cd35e
http://europepmc.org/articles/PMC7734304

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Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

Autor: Frédéric Darios, Giovanni Stevanin

Publikováno v: Journal of Molecular Biology
Journal of Molecular Biology, 2020, 432 (8), pp.2714-2734. ⟨10.1016/j.jmb.2020.02.033⟩
Journal of Molecular Biology, Elsevier, 2020, 432 (8), pp.2714-2734. ⟨10.1016/j.jmb.2020.02.033⟩

Rare genetic diseases affect a limited number of patients, but their etiology is often known, facilitating the development of reliable animal models and giving the opportunity to investigate physiopathology. Lysosomal storage disorders are a group of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0dc781e108f6a4267705cba2ae315f
https://hal.sorbonne-universite.fr/hal-02617474/document

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Mutations in ARSB in MPS VI patients in India

Autor: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reports

Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive inborn error of metabolism caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme. We present here the results of a study undert

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7118e015b695c28fc964a97d7300e6
https://doi.org/10.1016/j.ymgmr.2015.06.002

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Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome

Autor: Kenji E. Orii, Shunji Tomatsu, Robert W. Mason, Yasuyuki Suzuki, Tadao Orii, Hiromasa Yabe, Shunichi Kato, Akemi Tanaka, Pravin Patel, Tsutomu Shimada, Toshiyuki Fukao

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 184-196 (2014)

Patients with Hunter syndrome (mucopolysaccharidosis II) present with skeletal dysplasia including short stature as well as CNS and visceral organ involvement. A previous study on Hunter syndrome indicated an impact on brain and heart involvement aft

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b66133ecd54e208304edab4416b0dad
http://europepmc.org/articles/PMC4104387

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Growth charts for patients with Hunter syndrome

Autor: Tsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, Kenji E. Orii, Yasuyuki Suzuki, Miho Maeda, Pravin Patel, Tadao Orii

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 5-18 (2014)
Molecular Genetics and Metabolism Reports

Children with mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, an X-linked disorder, suffer from a multisystem dysfunction caused by the accumulation of glycosaminoglycans. However, there has been no systemic report on the growth of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::356b9c517e4085eb0585bef53140b231
http://www.sciencedirect.com/science/article/pii/S2214426913000037

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Akademický článek

LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease.

Autor: Yazd HS; Department of Chemistry, University of Florida, Gainesville, FL 32610, USA., Bazargani SF; Department of Chemistry, University of Florida, Gainesville, FL 32610, USA., Vanbeek CA; AmeriPath, Renal Pathology, Oklahoma City, OK 73114, USA., King-Morris K; Department of Medicine, University of Central Florida, Orlando, FL 32827, USA., Heldermon C; Department of Neurology, University of Florida, Gainesville, FL 32610, USA., Segal MS; Department of Medicine, Division of Nephrology, Hypertension & Renal Transplantation, University of Florida, Gainesville, FL 32610, USA., Clapp WL; Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL 32610, USA., Garrett TJ; Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL 32610, USA.

Publikováno v: Journal of mass spectrometry and advances in the clinical lab [J Mass Spectrom Adv Clin Lab] 2021 Nov 26; Vol. 22, pp. 71-78. Date of Electronic Publication: 2021 Nov 26 (Print Publication: 2021).

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