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pelizaeus-merzbacher disease/phosphatase
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The plant mobile domain proteins MAIN and MAIL1 interact with the phosphatase PP7L to regulate gene expression and silence transposable elements in Arabidopsis thaliana.
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Transposable elements (TEs) are DNA repeats that must remain silenced to ensure cell integrity. Several epigenetic pathways including DNA methylation and histone modifications are involved in the silencing of TEs, and in the regulation of gene expression. In Arabidopsis thaliana, the TE-derived
The ultrastructure of the retina in adult metachromatic leukodystrophy.
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A 46-year-old woman afflicted with biochemically proven metachromatic leukodystrophy had only mild optic atrophy shortly before her death. Repeated earlier ophthalmoscopic examinations had not revealed any retinal abnormalities. Light microscopy of the retina showed strong acid phosphatase activity
PP1C and PP2A are p70S6K Phosphatases Whose Inhibition Ameliorates HLD12-Associated Inhibition of Oligodendroglial Cell Morphological Differentiation.
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Myelin sheaths created by oligodendroglial cells encase neuronal axons to achieve saltatory conduction and protect axons. Pelizaeus-Merzbacher disease (PMD) is a prototypic, hereditary demyelinating oligodendroglial disease of the central nervous system (CNS), and is currently known as
[A case of membranous lipodystrophy (Nasu) with diffuse cerebral white matter involvement and cerebellar atrophy on brain CT and MRI].
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A 37-year-old female was admitted to our hospital because of progressive dementia and gait disturbance. She was healthy until 34 years of age when she had difficulty in walking and memory disturbance with personality changes. At age 36, she developed urinary incontinence and dementia. The
Regulation of GRK 2 and 6, beta-arrestin-2 and associated proteins in the prefrontal cortex of drug-free and antidepressant drug-treated subjects with major depression.
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G protein-coupled receptor kinases (GRKs) and beta-arrestin-2 play a crucial role in the regulation of neurotransmitter receptors in brain. In this study, GRK 2, GRK 6, beta-arrestin-2 and associated proteins (Gbeta proteins and protein phosphatase (PP)-2A) were quantitated in parallel
Histomorphological and histochemical studies on the preen gland of cortisone-treated male pigeons.
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Intramuscular administration of cortisone acetate (5 mg daily to each for 15 days) to adult male pigeons provoked hypertrophy of the preen gland. Desquamation and loss of alveolar differentiated cells were also accelerated to a great extent. Significant changes observed in the histochemical
[On the question of cutaneous changes associated with paraproteinemia. Light- and electron-microscopic study (author's transl)].
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This report deals with a case of paraproteinemia (IgG Kappa) associated with skin indurations and yellowish papules on the trunk, edema of the face, and crystals in the cornea. In addition to the absence of elastic fibers and reductions of collagen fibers, light microscopy revealed single and/or
Testicular yolk sac carcinoma in a calf.
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A testicular yolk sac carcinoma (YSCA) was diagnosed in a 28-day-old male Japanese black calf. Macroscopically, the abdominal cavity was filled with reddish gelatinous masses of various sizes. There were no testes in the scrotum or pelvic cavity. Histologically, the masses consisted of the tissues
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
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For the purpose of evaluating electron microscopy of tissue culture in making the diagnosis of sphingolipidoses, an ultrastructural study was made on the cultured fibroblasts from 23 patients with the disorders. The characteristic cytoplasmic inclusions were observed in the cultured cells of Fabry
[Granular CALLA-positive acute lymphoblastic leukemia].
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One of the main criteria in the differentiation between acute lymphoblastic (ALL) and acute myeloblastic leukemias (AML) is the presence of granules in the blasts of the latter. Recently, several groups have described a form of ALL with prominent intracytoplasmatic granules (G-ALL) in the blasts.
Lipofuscin (aging) pigment granules of the newborn human liver.
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We have observed pigmented cytoplasmic granules, with the characteristic staining properties of lipofuscin (ceroid, "wear-and-tear") pigment, in newborn human liver. The pigment is found at the periphery of the lobule in hepatocytes and some bile ductular cells. It is acid-fast, PAS-positive after
[Serum enzyme dynamics in progressive muscular dystrophies].
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The activity of serum enzymes, such as, creatine kinase (CK), pyruvate kinase (PK), aldolase (ALD), lactate dehydrogenase (LDH), sorbitol dehydrogenase (SbDH), malate dehydrogenase (MDH), glutamate-aspartate aminotransferase (AST), glutamate-alanine aminotransferase (ALT), myokinase (MK),
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
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We wish to delineate a novel, and rapidly expanding, group of inborn errors of metabolism with neurological/muscular presentations: the defects in phospholipids, sphingolipids and long chain fatty acids biosynthesis. At least 14 disorders have been described so far. Clinical presentations are
CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency.
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SH3 and multiple ankyrin repeat domains 3 (SHANK3) haploinsufficiency is causative for the neurological features of Phelan-McDermid syndrome (PMDS), including a high risk of autism spectrum disorder (ASD). We used unbiased, quantitative proteomics to identify changes in the phosphoproteome of
Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases.
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In 2003, we reported on a 12-yr-old boy who had developed osteopetrosis (OPT) while receiving pamidronate (PMD) for idiopathic bone pain and enigmatic elevation in circulating bone alkaline phosphatase. Now 17 yr of age, he was re-evaluated 6.5 yr after PMD exposure stopped. Our patient described
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