lysosomal storage diseases/tyrosine

Врската е зачувана во таблата со исечоци

НаписиКлинички испитувањаПатенти

Изберете вид на сортирање

14 резултати

Neutral 5-substituted 4-anilinoquinazolines as potent, orally active inhibitors of erbB2 receptor tyrosine kinase.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Neutral 5-substituted 4-anilinoquinazolines addressed high in vivo clearance and phospholipidosis associated with previous basic compounds. A representative compound 8a inhibited tumor growth in a mouse xenograft model when co-administered with the cytochrome P450 inhibitor 1-aminobenzotriazole

Gene therapy to human diseases.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

The identification of defective genes associated with a number of human disorders (tyrosine hydroxylase for Parkinson's disease, aspartylglucosaminidase in lysosomal storage disease, CFTR in cystic fibrosis, and LDL receptor in familial hypercholesterolemia) has promoted the development of

Deep phenotyping of peripheral tissue facilitates mechanistic disease stratification in sporadic Parkinson's disease.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Mechanistic disease stratification will be crucial to develop a precision medicine approach for future disease modifying therapy in sporadic Parkinson's disease (sPD). Mitochondrial and lysosomal dysfunction are key mechanisms in the pathogenesis of sPD and therefore promising targets for

Enzyme replacement therapy for Gaucher's disease in patient treated for non-small cell lung cancer.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Gaucher's disease (GD) is an autosomal recessive lysosomal storage disease resulting in an abnormal accumulation of glucocerebrosides in macrophages. Recent studies have reported that patients with GD are at an increased risk of developing malignancies. Here, a rare case of a patient with Type I GD

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Mucopolysaccharidosis type IIIB (Sanfilippo syndrome) is a lysosomal storage disease caused by a genetic defect in the production of alpha-N-acetylglucosaminidase. This results in lysosomal and extracellular accumulation of the undegraded glycosaminoglycan (GAG) substrate, heparan sulphate. Affected

Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy disease) results from the deficient activity of the lysosomal enzyme, arylsulfatase B (ASB; N-acetylgalactosamine-4-sulfatase E.C.3.1.6.1). The enzymatic defect leads to the accumulation of the glycosaminoglycan, dermatan sulfate, primarily in

Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

BACKGROUND Neurodegenerative metabolic disorders such as mucopolysaccharidosis IIIB (MPSIIIB or Sanfilippo disease) accumulate undegraded substrates in the brain and are often unresponsive to enzyme replacement treatments due to the impermeability of the blood brain barrier to enzyme. MPSIIIB is

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disease caused by a deficient activity of iduronate-2-sulfatase, leading to abnormal accumulation of glycosaminoglycans (GAG). The main treatment for MPS II is enzyme replacement therapy (ERT). Previous studies described potential

[A 32-year old male patient with pathological humeral fracture, splenomegaly and thrombocytopenia].

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

We describe the case of a 32-year old male patient who presented with a pathological fracture of his right humerus, splenomegaly and thrombocytopenia, the typical symptoms of Gaucher's disease, a lysosomal storage disease. Diagnosis was confirmed by bone marrow biopsy (detection of lipid engorged

Swainsonine as a lysosomal toxin affects dopaminergic neurons.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Swainsonine (SW) is an indolizidine triol plant alkaloid isolated from the species Astragalus, colloquially termed locoweed. When chronically ingested by livestock and wildlife, symptoms include severe neuronal disturbance. Toxicity to the central and peripheral nervous system is caused by

Neurobiology and cellular pathogenesis of glycolipid storage diseases.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Disorders of lysosomal metabolism often involve the accumulation of specific types of glycolipid, particularly gangliosides, because of either degradative failure or other currently unknown mechanisms. Although the precise role of gangliosides in cells remains enigmatic, the presence of specific

Mechanism of shortened bones in mucopolysaccharidosis VII.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Mucopolysaccharidosis VII (MPS VII) is a lysosomal storage disease in which deficiency in beta-glucuronidase results in glycosaminoglycan (GAG) accumulation in and around cells, causing shortened long bones through mechanisms that remain largely unclear. We demonstrate here that MPS VII mice

Corneal dystrophies.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically, the corneal dystrophies can be divided into

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.

Само регистрираните корисници можат да преведуваат статии

Пријавете се / пријавете се

Chloride-proton exchange by the lysosomal anion transporter ClC-7/Ostm1 is of pivotal importance for the physiology of lysosomes and bone resorption. Mice lacking either ClC-7 or Ostm1 develop a lysosomal storage disease and mutations in either protein have been found to underlie osteopetrosis in

Придружете се на нашата
страница на Facebook

Herbal & Natural Medicine

Најкомплетната база на податоци за лековити билки поддржана од науката

Работи на 55 јазици
Лекови од билки поддржани од науката
Препознавање на билки по слика
Интерактивна GPS мапа - означете ги билките на локацијата (наскоро)
Прочитајте научни публикации поврзани со вашето пребарување
Пребарувајте лековити билки според нивните ефекти
Организирајте ги вашите интереси и останете во тек со истражувањето на новостите, клиничките испитувања и патентите

Напишете симптом или болест и прочитајте за билки што можат да помогнат, напишете билка и видете болести и симптоми против кои се користи.
* Сите информации се базираат на објавени научни истражувања