Results 91 to 100 of about 15,059 (213)

Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry[S]

Journal of Lipid Research, 2015
Sulfatides are found in brain as components of myelin, oligodendrocytes, and neurons but are also present in various visceral tissues. Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disorder caused by a deficiency of arylsulfatase A,
Mina Mirzaian, Gertjan Kramer, Ben J.H.M. Poorthuis   +2 more
doaj   +1 more source

Neurological diseases and stem cell transplantation - review paper [PDF]

, 2008
Stem cells and their potentials for therapy are major areas of research. The literature on the subject is expanding at a very rapid pace and the great prospectives offered by these remarkable cells are continuously being unravelled.
Blundell, Renald, Vassallo, J.
core  

Rescue of splicing-mediated intron loss maximizes expression in lentiviral vectors containing the human ubiquitin C promoter. [PDF]

, 2014
Lentiviral vectors almost universally use heterologous internal promoters to express transgenes. One of the most commonly used promoter fragments is a 1.2-kb sequence from the human ubiquitin C (UBC) gene, encompassing the promoter, some enhancers, first
Cooper, Aaron R, Gschweng, Eric H, Kohn, Donald B, Lill, Georgia R   +3 more
core   +1 more source

Organoid‐based novel technology for antitumor drug screening

VIEW, Volume 6, Issue 6, December 2025.
Organoids represent a cutting‐edge research model that closely mimics in vivo organ physiology, making them highly valuable for tumor immunotherapy drug screening. This review explores the integration of organoids with advanced technologies, such as gene editing, 3D bioprinting, and AI, highlighting novel fusion platforms and their applications.
Yu Su, Yuan Chen, Guanning Wei, Yihai Shi   +3 more
wiley   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? [PDF]

PLoS ONE, 2011
BACKGROUND: Metachromatic leukodystrophy (MLD) is a severe neurometabolic disease caused mainly by deficiency of arylsulfatase A encoded by the ARSA gene.
Agnieszka Ługowska, Joanna Ponińska, Paweł Krajewski, Grażyna Broda, Rafał Płoski   +4 more
doaj   +1 more source

ACE‐mediated Glycosylation Stabilizes PSAP To Promote GPR37‐dependent Macrophage‐Nucleus Pulposus Cells Crosstalk and TGFβ Signaling in Alleviating Intervertebral Disc Degeneration

Advanced Science, Volume 12, Issue 43, November 20, 2025.
ACE can modulate the CBL‐mediated K48 ubiquitination degradation of PSAP by altering its glycosylation levels in NP cells. As a result, NP cells secrete PSAP, which interacts with GPR37 on macrophage surfaces, facilitating their polarization toward the M2 phenotype. These M2 macrophages subsequently secrete TGFβ, which exerts feedback effects on the NP
Youfeng Guo, Feng Wang, Bijun Wang, Yu Zhou, Chao Wang, Tao Hu, Desheng Wu   +6 more
wiley   +1 more source

The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India

Annals of Indian Academy of Neurology, 2016
Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India ...
Sheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra   +5 more
doaj   +1 more source

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof, Hugo P. Lantinga, Gonnie Alkemade, Annet M. Bosch, Marion M. Brands, Danique Draaisma‐van Vliet, Andrea B. Haijer‐Schreuder, Eva M. M. Hoytema van Konijnenburg, Mirian C. H. Janssen, Melanie M. van der Klauw, Mirjam Langeveld, Charlotte M. A. Lubout, Sonja L. van Ockenburg, Esmeralda Oussoren, Bianca Panis, Barbara Sjouke, Maaike de Vries, Margreet A. E. M. Wagenmakers, Mark Wijnen, Deborah A. Sival, Marina A. J. Tijssen, Tom J. de Koning, Lisette H. Koens   +22 more
wiley   +1 more source

Metachromatic Leucodystrophy: A Case Report

Journal of Karnali Academy of Health Sciences, 2021
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside
Ramchandra Bastola, Shree Krishna Shrestha, Amrita Ghimire, Sunita Ghimire   +3 more
doaj   +2 more sources