Results 41 to 50 of about 42,118 (292)

Gaucher disease: achievements and prospects

Терапевтический архив, 2021
Gaucher disease (GD) is the most common lysosomal storage disorder, resulting from a deficiency in the activity of a lysosomal enzyme glucocerebrosidase, which is involved in the catabolism of sphingolipids.
Rodion V. Ponomarev, Elena A. Lukina
doaj   +1 more source

Trehalose alleviates the phenotype of Machado–Joseph disease mouse models [PDF]

, 2020
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration.
Cavadas, Cláudia, Cunha-Santos, Janete, Gaspar, Laetitia S., Greif, Hagar, Nobre, Rui Jorge, Nóbrega, Clévio, Paixão, Susana, Pereira de Almeida, Luís, Santana, Magda M., Silva, Teresa Pereira, Trevino-Garcia, Allyson   +10 more
core   +1 more source

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. [PDF]

, 2016
Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterised by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated ...
Adibhatla, Aghajanian, Alazami, Alderson, Andrews, Balboa, Balsinde, Barbeito, Beck, Bosveld, Bras, Bras, Breus, Brissot, Broekemeier, Brunetti, Burn, Campanella, Chen, Cozzi, Crichton, Cui, Curtis, Dall'Armi, Daugherty, Davis, Deas, Dehay, Deng, Deschauer, Di Fonzo, Dick, Duran, Dusi, Eckhardt, Edvardson, Elbaz-Alon, Engel, Friedman, Fukunaga, Gadd, Gitler, Gonzalez-Cuyar, Green, Gregory, Gregory, Grünewald, Haack, Hailey, Hallgren, Hama, Hamasaki, Hartig, Hartig, Hayflick, Hayflick, Hill, Hogarth, Hong, Hortnagel, Houlden, Hönscher, Itoh, Iuso, Jana, Jenkins, Jeong, Jiang, Jin, Kaneko, Keller, Keogh, Kondo, Kono, Kotzbauer, Kruer, Kruer, Kruer, Kruer, Kurz, Kühlbrandt, Landouré, Larsson, Lei, Leonardi, Leoni, Levi, Li, Liou, Lu, Maday, Mahadevan, Malik, Mancuso, Manjithaya, Mariño, McNeill, Moreno, Morgan, Morita, Nemazanyy, Nousbeck, Oide, Ong, Paisan-Ruiz, Paisán-Ruiz, Park, Perry, Pivtoraiko, Poli, Polishchuk, Potter, Proikas-Cezanne, Ramirez, Ramonet, Rana, Riku, Ross, Ross, Rouault, Rouault, Roy, Saitsu, Scherz-Shouval, Schmidt, Schneider, Schneider, Seleznev, Shinzawa, Siudeja, Song, Strokin, Strokin, Tan, Tooze, Tsunemi, Usenovic, Vidal, Walia, Williams, Wu, Xu, Yadrick, Yang, Yoshida, Yoshida, Zhang, Zhou, Zorzi   +148 more
core   +1 more source

Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease [PDF]

, 2013
Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase.
Güngör, D. (Deniz)
core   +1 more source

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +2 more sources

Lysosomal Storage Disorders and Malignancy [PDF]

Diseases, 2017
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population.
Pastores, GM, Hughes, DA
openaire   +4 more sources

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

Nature Communications, 2021
Mucopolysaccharidosis type IVA (MPSIVA) is a lysosomal storage disorder causing severe skeletal and non-skeletal alterations in patients. Here, the authors generate a MPSIVA rat model that mimics the disabling human pathology and develop an AAV9-Galns ...
Joan Bertolin, Víctor Sánchez, Albert Ribera, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Xavier Sánchez, Sergio Muñoz, Sara Marcó, Jennifer Pérez, Gemma Elias, Xavier León, Carles Roca, Veronica Jimenez, Pedro Otaegui, Francisca Mulero, Marc Navarro, Jesús Ruberte, Fatima Bosch   +18 more
doaj   +1 more source

The role of lipid metabolism in neuronal senescence

FEBS Open Bio, EarlyView.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari, Eleftheria Panagiotidou, Nektarios Tavernarakis   +2 more
wiley   +1 more source