Pages that link to "Q43616427"
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The following pages link to A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse (Q43616427):
Displaying 50 items.
- Galactosylceramidase (Q14905425) (← links)
- Prosaposin (Q14914245) (← links)
- Mesotrypsin and caspase-14 participate in prosaposin processing: potential relevance to epidermal permeability barrier formation (Q24298476) (← links)
- Crystal structures of saposins A and C (Q24647618) (← links)
- The protective role of prosaposin and its receptors in the nervous system (Q27014092) (← links)
- Structure and Mechanism of the Saposin-like Domain of a Plant Aspartic Protease (Q27670451) (← links)
- Insights into Krabbe disease from structures of galactocerebrosidase (Q27672430) (← links)
- Structure of saposin A lipoprotein discs (Q27677107) (← links)
- Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells (Q28303129) (← links)
- Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice (Q28863479) (← links)
- Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome. (Q30491775) (← links)
- Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice (Q33357027) (← links)
- Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse (Q33863241) (← links)
- The exon 8-containing prosaposin gene splice variant is dispensable for mouse development, lysosomal function, and secretion (Q33707637) (← links)
- Multi-system disorders of glycosphingolipid and ganglioside metabolism (Q33902037) (← links)
- Globoid Cell Leukodystrophy (Krabbe's Disease): Update (Q34542704) (← links)
- Biosynthesis and degradation of mammalian glycosphingolipids (Q35153204) (← links)
- In silico insights into protein-protein interactions and folding dynamics of the saposin-like domain of Solanum tuberosum aspartic protease (Q35238167) (← links)
- Saposin B is the dominant saposin that facilitates lipid binding to human CD1d molecules (Q35720184) (← links)
- Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease (Q36123828) (← links)
- Lipid-binding proteins in membrane digestion, antigen presentation, and antimicrobial defense (Q36288710) (← links)
- Sphingolipids and membrane biology as determined from genetic models (Q36459028) (← links)
- Regional expression of prosaposin in the wild-type and saposin D-deficient mouse brain detected by an anti-mouse prosaposin-specific antibody (Q36753118) (← links)
- The function of sphingolipids in the nervous system: lessons learnt from mouse models of specific sphingolipid activator protein deficiencies (Q36994535) (← links)
- Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. (Q37003180) (← links)
- A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline (Q37656561) (← links)
- The immunological functions of saposins (Q37761491) (← links)
- Lysosomal Lipid Storage Diseases (Q37866549) (← links)
- My journey into the world of sphingolipids and sphingolipidoses (Q38066410) (← links)
- My encounters with Krabbe disease: A personal recollection of a 40-Year journey with young colleagues (Q38559221) (← links)
- Endothelial cell dysfunction in globoid cell leukodystrophy. (Q38796127) (← links)
- Substrate reduction therapy for Krabbe's disease (Q38957273) (← links)
- Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits (Q39357071) (← links)
- Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death (Q40286377) (← links)
- Establishment and characterization of spontaneously immortalized Schwann cells from murine model of globoid cell leukodystrophy (twitcher). (Q40719159) (← links)
- Saposins (sap) A and C activate the degradation of galactosylsphingosine (Q40768916) (← links)
- LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease (Q41153063) (← links)
- Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations (Q41455989) (← links)
- Interaction of saposin D with membranes: effect of anionic phospholipids and sphingolipids (Q41831086) (← links)
- Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models (Q41871999) (← links)
- Ex vivo localization of the mouse saposin C activation region for acid beta-glucosidase (Q44070457) (← links)
- Prosaposin: threshold rescue and analysis of the "neuritogenic" region in transgenic mice (Q44123136) (← links)
- Physiological relevance of sphingolipid activator proteins in cultured human fibroblasts (Q44456234) (← links)
- Phospholipid vesicle fusion induced by saposin C. (Q44474748) (← links)
- Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation (Q44482194) (← links)
- Role of saposin C and D in auditory and vestibular function (Q46078341) (← links)
- A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans (Q46385385) (← links)
- Protein Structure Insights into the Bilayer Interactions of the Saposin-Like Domain of Solanum tuberosum Aspartic Protease (Q47111286) (← links)
- An infant with myoclonic jerks, global developmental delay, and failure to thrive (Q48190953) (← links)
- The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure (Q48263330) (← links)