Results 41 to 50 of about 4,196 (206)

Autophagy in Lysosomal Storage Disorders [PDF]

, 2012
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis ...
Ballabio, Andrea, Lieberman, Andrew P., Puertollano, Rosa, Raben, Nina, Slaugenhaupt, Susan Ann, Walkley, Steven U.   +5 more
core   +1 more source

Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation

Stem Cell Research
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by defects in the beta-galactosidase (GLB1) gene, which results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling,
Jingyun Guan, Chunhong Duan, Yuqiang Lv, Haiyan Zhang, Guohua Liu, Yi Liu   +5 more
doaj   +1 more source

Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis

Annals of Movement Disorders, 2019
Type III GM1 gangliosidosis is the adult or chronic variant of a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase.
Shweta Prasad, Lulup K Sahoo, Jitender Saini, Pramod K Pal   +3 more
doaj   +1 more source

GM1-Gangliosidosis Type III Associated Parkinsonism [PDF]

, 2021
GLB1 encodes beta-galactosidase-1, a lysosomal hydrolase that cleaves the terminal beta-galactose from ganglioside substrates. Biallelic variants in GLB1 cause beta-galactosidase deficiency leading to GM1 gangliosidosis.1 Type III GM1 gangliosidosis ...
Allahyarova, Parvin, Ferla, Matteo P, Gulieva, Sughra, Guliyeva, Ulviyya, Houlden, Henry, Kaiyrzhanov, Rauan, Mursalova, Aytan, Salayev, Kamran   +7 more
core  

Peripheral blood findings in GM1 gangliosidosis [PDF]

Blood, 2016
![Figure][1] This peripheral blood is from a 3-month-old male patient with a prior diagnosis of GM1 gangliosidosis type I, who was admitted with fever and leukocytosis. There is a family history of 2 siblings with GM1 gangliosidosis.
David T, Lynch, David R, Czuchlewski
openaire   +2 more sources

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Brain β-Galactosidase and Gm1 Gangliosidosis [PDF]

Pediatric Research, 1974
Extract: Several properties of β-galactosidase obtained from brains of controls and patients with Gm1 gangliosidosis types I and II were studied. The pH optimum of β-galactosidase was 4 in both fetal and control brain. In contrast, the pH optimum of brain β-galactosidase in patients with either type I or type II Gm1 gangliosidosis was 3. The residual β-
L, Chou, C I, Kaye, H L, Nadler
openaire   +2 more sources

A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]

, 2010
Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús, Barboza Quintana, Oralia, Barboza Quintana, Álvaro, Garza Alatorre, Arturo Gerardo, Melo de la Garza, Américo, Ponce Camacho, Marco Antonio, Ramírez Bon, Enrique, Rodríguez Gutiérrez, Nora Alicia   +7 more
core  

Neuromuscular synaptic transmission in aged ganglioside-deficient mice [PDF]

, 2011
Gangliosides are sialylated glycosphingolipids that are present in high density on neuronal membranes, especially at synapses, where they are assumed to play functional or modulating roles.
Furukawa, K., Furukawa, K., Jacobs, B.C., Plomp, J.J., Todorov, B., Verschuuren, J.J., Willison, H.J., Zitman, F.M.P.   +7 more
core   +1 more source

Gut microbiota shifts and short‐chain fatty acids alterations in pediatric epilepsy patients on a Mediterranean ketogenic diet

Epileptic Disorders, EarlyView.
Abstract Objective The olive oil–based Mediterranean ketogenic diet (MedKD) may support patients with drug‐resistant epilepsy (DRE) or neurometabolic disorders by integrating ketogenic therapy with the cardiometabolic and neuroprotective advantages of the Mediterranean diet.
Sofia Zouganeli, Evdokia K. Mitsou, Mary Yannakoulia, Evangelia Intze, Konstantinos C. Mountzouris, Smaragdi Fessatou, Achilleas Attilakos, Adamantini Kyriacou, Argyrios Dinopoulos   +8 more
wiley   +1 more source