نتایج جستجو برای: mucolipidosis
تعداد نتایج: 464 فیلتر نتایج به سال:
Revisions of DSM and ICD are forthcoming. Should the old categories of psychotic disorder, in particular the construct of schizophrenia, be retained or is a new system of representation of psychosis in order? It is argued that both scientific and societal developments point to a system of classification combining categorical and dimensional representations of psychosis in DSM and ICD. Furthermo...
The size of the mutant N-acetylglucosamine 1-phosphotransferase in Golgi membranes from fibroblasts of patients with I-cell disease and classical pseudo-Hurler polydystrophy, which comprised one complementation group characterized by deficiency towards both artificial and natural acceptor substrates, was significantly smaller than the normal enzyme, 151-174 kDa compared with 225-278 kDa. The si...
In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and mucolipidosis IV. Although the biopsy was not diagnostic in other categories of s...
We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented with aneurysmal SAH originated from a saccular aneurysm of the right posterior communicating artery. The patient was treated by an endovascular coil embolization of aneurysm. Postoperatively the patient recovered favorably without any neurological deficit. During her...
Gastric acid secretion by parietal cells requires trafficking and exocytosis of H/K-ATPase-rich tubulovesicles (TVs) toward apical membranes in response to histamine stimulation via cyclic AMP elevation. Here, we found that TRPML1 (ML1), a protein that is mutated in type IV mucolipidosis (ML-IV), is a tubulovesicular channel essential for TV exocytosis and acid secretion. Whereas ML-IV patients...
I-cell disease (mucolipidosis II) is a rare metabolic disorder resulting from the deficiency of a specific lysosomal enzyme, N-acetylglucosamine-1-phosphotransferease. Developmental delay and growth failure are common presentations of I-cell disease. Psychomotor deterioration is rapid and progressive. Some physical signs, such as hip dislocations, inguinal hernia, hepatomegaly, joint limitation...
Cultured fibroblasts from a 46,XY male with an atypical form of mucolipidosis 11 (1-cell disease) had two distinct phenotypes. One population of these fibroblasts had the morphological and biochemical features characteristic of I-cell disease, while the remaining cells were indistinguishable from normal fibroblasts. Direct evidence that the patient was a mosaic, having two cell populations, was...
Cultured skin fibroblast cells were prepared from two patients with mucolipidosis III (ML III), which is a genetic disorder characterized by low activities of multiple lysosomal enzymes in fibroblasts. Genetic complementation analysis of fused fibroblast hybrids revealed that the patients were classified in different complementation groups. Growth curves of fibroblasts of ML III patients in cul...
Mutations in TRPML1 cause the lysosomal storage disease mucolipidosis type IV (MLIV). The role of TRPML1 in cell function and how the mutations cause the disease are not well understood. Most studies focus on the role of TRPML1 in constitutive membrane trafficking to and from the lysosomes. However, this cannot explain impaired neuromuscular and secretory cells' functions that mediate regulated...
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