Results 21 to 30 of about 13,005 (161)

The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease

The Turkish Journal of Pediatrics, 2022
Background. Cystic fibrosis (CF) is a multisystemic, autosomal recessive disease, which is caused by a mutation in the transmembrane conduction regulator protein (CFTR) gene.
Aslı İmran Yılmaz, Betül Uğurlu, Gökçen Ünal, Hüseyin Tokgöz, Sevgi Pekcan   +4 more
doaj   +1 more source

Exacerbating and reversing lysosomal storage diseases: from yeast to humans

Microbial Cell, 2017
Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion.
Tamayanthi Rajakumar, Andrew B. Munkacsi, Stephen L. Sturley   +2 more
doaj   +1 more source

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Orphanet Journal of Rare Diseases
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases.
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar   +12 more
doaj   +1 more source

Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase

Journal of Lipid Research, 2017
Glucosylceramide (GlcCer) is the primary storage lipid in the lysosomes of Gaucher patients and a secondary one in Niemann-Pick disease types A, B, and C.
Misbaudeen Abdul-Hammed, Bernadette Breiden, Günter Schwarzmann, Konrad Sandhoff   +3 more
doaj   +1 more source

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia

Neurología (English Edition), 2019
Introduction: Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system.
M. Arias
doaj   +1 more source

A Niemann‐pick C1 disease child with BCG-itis: a case report and analysis

BMC Pediatrics, 2021
Background Niemann-Pick C disease is a rare autosomal recessive lysosomal lipid storage disorder. Some primary immunodeficiency diseases patients developed regional disease or disseminated disease after vaccinating BCG.
Jing-jing Lin, Xu-hui Liu, Lu Xia, Yan-ling Feng, Xiu-hong Xi, Shui-hua Lu   +5 more
doaj   +1 more source

Overlapping Neuroimmune Mechanisms and Therapeutic Targets in Neurodegenerative Disorders

Biomedicines, 2023
Many potential immune therapeutic targets are similarly affected in adult-onset neurodegenerative diseases, such as Alzheimer’s (AD) disease, Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD), as well as in ...
Fabiola De Marchi, Ivana Munitic, Lea Vidatic, Eliša Papić, Valentino Rački, Jerneja Nimac, Igor Jurak, Gabriela Novotni, Boris Rogelj, Vladimira Vuletic, Rajka M. Liscic, Jason R. Cannon, Emanuele Buratti, Letizia Mazzini, Silva Hecimovic   +14 more
doaj   +1 more source

Chemical Proteomic Analysis of Serine Hydrolase Activity in Niemann-Pick Type C Mouse Brain

Frontiers in Neuroscience, 2018
The endocannabinoid system (ECS) is considered to be an endogenous protective system in various neurodegenerative diseases. Niemann-Pick type C (NPC) is a neurodegenerative disease in which the role of the ECS has not been studied yet.
Eva J. van Rooden, Annelot C. M. van Esbroeck, Marc P. Baggelaar, Hui Deng, Bogdan I. Florea, André R. A. Marques, Roelof Ottenhoff, Rolf G. Boot, Herman S. Overkleeft, Johannes M. F. G. Aerts, Mario van der Stelt   +10 more
doaj   +1 more source

Impact of Alcohol Abuse on Susceptibility to Rare Neurodegenerative Diseases

Frontiers in Molecular Biosciences, 2021
Despite the prevalence and well-recognized adverse effects of prenatal alcohol exposure and alcohol use disorder in the causation of numerous diseases, their potential roles in the etiology of neurodegenerative diseases remain poorly characterized.
Iskra Araujo, Amy Henriksen, Joshua Gamsby, Joshua Gamsby, Danielle Gulick, Danielle Gulick   +5 more
doaj   +1 more source

Claves para afrontar el reto diagnóstico de las heredoataxias recesivas

Neurología, 2019
Resumen: Introducción: Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo y/o de sus conexiones; en muchos casos también se afectan otras partes del sistema nervioso.
M. Arias
doaj   +1 more source