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6 results on '"APLP"'

1. Differential Distribution of Alzheimer's Amyloid Precursor Protein Family Variants in Human Sperm.

Author

FARDILHA, MARGARIDA, VIEIRA, SANDRA I., BARROS, ALBERTO, SOUSA, MÁRIO, Da CRUZ e SILVA, ODETE A.B., and Da CRUZ e SILVA, EDGAR F.

Subjects
*ALZHEIMER'S disease, *AMYLOID beta-protein precursor, *SPERMATOZOA, *PEPTIDES, *AMYLOID, *EPITOPES
Abstract

The Alzheimer's amyloid precursor protein (APP) is a type I transmembrane glycoprotein with receptor-like characteristics that originates the Abeta peptide by proteolytic processing. Abeta is potentially cytotoxic and the major component of the cerebral amyloid plaques in Alzheimer's disease (AD) patients. APP is known to be ubiquitously expressed in mammalian cells, with a broad tissue distribution, and Abeta deposition has been reported to occur also in many cells outside the nervous system. Although many putative functions have been suggested for APP, its precise physiological role remains to be elucidated. As several results point to a role of chronic inflammation in AD pathogenesis and suggest that AD might be a systemic disorder, the importance of APP function in non-neuronal cells/tissues has gained increased relevance. Previous studies have shown that amyloid precursor-like protein 2 (APLP2) is highly expressed in testis and sperm, but failed to unambiguously prove the presence of APP itself in mammalian sperm. The use of a battery of available antibodies that detect APP-specific epitopes or epitopes shared with other APP family members, revealed quite distinct distributions in human sperm. Our results are consistent with previous observations of APLP2 in sperm and unequivocally demonstrate the presence of APP itself in human sperm, thus suggesting a putative role for this important protein in sperm function. [ABSTRACT FROM AUTHOR]

Published
2007
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2. Lengthening of G2/mitosis in cortical precursors from mice lacking β-amyloid precursor protein

Author

López-Sánchez, N., Müller, U., and Frade, J.M.

Subjects
*GLYCOPROTEINS, *PROTEASE inhibitors, *MONOCLONAL antibodies, *BLOOD plasma, *NERVOUS system
Abstract

Abstract: The β-amyloid precursor protein (APP) is expressed within the nervous system, even at the earliest stages of embryonic development when cell growth and proliferation is particularly important. In order to study the function of APP at these early developmental stages, we have studied the development of the cerebral cortex in both wild type and App−/− mutant mice. Here, we demonstrate that APP mRNA is expressed in cortical precursor cells and that APP protein is concentrated within their apical domains during interphase. However, during mitosis, APP re-localizes to the peripheral space surrounding the metaphase plate. In APP-deficient cortical precursors, the duration of mitosis is increased and a higher proportion of cortical precursor cells contained nuclei in late G2. We conclude that during cortical development APP plays a role in controlling cell cycle progression, particularly affecting G2 and mitosis. These observations may have important implications for our understanding of how APP influences the progression of Alzheimer''s disease, since degenerating cortical neurons have been shown to up-regulate cell cycle markers and re-enter the mitotic cycle before dying. [Copyright &y& Elsevier]

Published
2005
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3. Cortical dysplasia resembling human type 2 lissencephaly in mice lacking all three APP family members.

Author

Herms, Jochen, Anliker, Brigitte, Heber, Sabine, Ring, Sabine, Fuhrmann, Martin, Kretzschmar, Hans, Sisodia, Sangram, and Müller, Ulrike

Subjects
*DYSPLASIA, *LISSENCEPHALY, *LABORATORY mice, *AMYLOID beta-protein precursor, *EMBRYOLOGY, *ALZHEIMER'S disease
Abstract

The Alzheimer's diseaseß-amyloid precursor protein (APP) is a member of a larger gene family that includes the amyloid precursor-like proteins, termed APLP1 and APLP2. We previously documented that APLP2-/-APLP1-/- and APLP2-/-APP-/- mice die postnatally, while APLP1-/-APP-/- mice and single mutants were viable. We now report that mice lacking all three APP/APLP family members survive through embryonic development, and die shortly after birth. In contrast to double-mutant animals with perinatal lethality, 81%of triple mutants showed cranial abnormalities. In 68%of triple mutants, we observed cortical dysplasias characterized by focal ectopic neuroblasts that had migrated through the basal lamina and pial membrane, a phenotype that resembles human type II lissencephaly. Moreover, at E18.5 triple mutants showed a partial loss of cortical Cajal Retzius (CR) cells, suggesting that APP/APLPs play a crucial role in the survival of CR cells and neuronal adhesion. Collectively, our data reveal an essential role for APP family members in normal brain development and early postnatal survival. [ABSTRACT FROM AUTHOR]

Published
2004
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4. PCR-RFLP detection and species identification of fungal pathogens in patients with febrile neutropenia

Author

M. Bartoš, Marcelo Grijalva, Jaroslav Benedík, Jaroslav Michálek, Miloš Dendis, Filip Růžička, and Radek Horváth

Subjects
Male, Pathology, PCR assay, Polymerase Chain Reaction, law.invention, law, Candida albicans, Child, DNA, Fungal, Polymerase chain reaction, Fungal pathogens, 0303 health sciences, Leukopenia, biology, General Medicine, 3. Good health, RNA, Ribosomal, 5.8S, medicine.anatomical_structure, Infectious Diseases, Child, Preschool, Female, Sample collection, medicine.symptom, Restriction fragment length polymorphism, RFLP analysis, Polymorphism, Restriction Fragment Length, Microbiology (medical), medicine.medical_specialty, Neutropenia, Adolescent, Fever, APLP, Sensitivity and Specificity, Microbiology, 03 medical and health sciences, Immunocompromised Host, Throat, DNA, Ribosomal Spacer, medicine, Humans, 030304 developmental biology, 030306 microbiology, Fungi, Infant, biology.organism_classification, medicine.disease, febrile neutropenia, Mycoses, RNA, Ribosomal, Febrile neutropenia
Abstract

Objective To assess the usefulness of polymerase chain reaction (PCR) assays in the diagnosis of fungal infections in immunocompromised patients. Methods A rapid and sensitive PCR-based assay for the detection and identification of fungal pathogens was designed and applicability of this method was investigated in a group of children with cancer and febrile neutropenia (FN). Results The ITS2 sequences and adjacent regions of 40 fungal pathogens were analyzed and primers for detection of all analyzed fungal species were designed. Amplification product length polymorphism (APLP) and restriction fragment length polymorphism (RFLP) generated genus- or species-specific patterns. The sensitivity of the method was approximately three cells of Candida albicans per 1 mL of blood. The results were available within 8 h after sample collection. The method was tested on 53 blood samples and one lung biopsy sample from 24 children with cancer and febrile neutropenia (FN). The PCR assay detected fungal DNA in 25 clinical samples from ten patients. Blood cultures were positive in only five samples, while another two blood-culture negative patients had positive cultures from throat swabs. The remaining 14 patients were both culture- and PCR-negative. Culture-isolated strains matched completely those obtained by PCR–APLP–RFLP identification. The identity of fungal species was confirmed by direct sequencing of amplified products. Conclusion Our results suggest that PCR–APLP–RFLP assays can be useful in the diagnosis of fungal infections in immunocompromised patients.

Published
2003
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5. Human Y-chromosome SNP characterization by multiplex amplified product-length polymorphism analysis

Author

Jurado Medina, Laura Smeldy, Muzzio, Marina, Schwab, Marisol Elisabet, Bravi Costantino, Maria Leticia, Barreto, Guillermo, and Bailliet, Graciela

Subjects
Ciencias Biológicas, Y chromosome, Otras Ciencias Biológicas, SNP, South America, APLP, CIENCIAS NATURALES Y EXACTAS
Abstract

We designed an allele-specific amplification protocol to optimize Y-chromosome SNP typing, which is an unavoidable step for defining the phylogenetic status of paternal lineages. It allows the simultaneous highly specific definition of up to six mutations in a single reaction by amplification fragment length polymorphism (AFLP) without the need of specialized equipment, at a considerably lower cost than that based on single-base primer extension (SNaPshot™) technology or PCR-RFLP systems, requiring as little as 0.5 ng DNA and compatible with the small fragments characteristic of low-quality DNA. By designation of two primers recognizing the derived and ancestral state for each SNP, which can be differentiated by size by the addition of a noncomplementary nucleotide tail, we could define major Y clades E, F, K, R, Q, and subhaplogroups R1, R1a, R1b, R1b1b, R1b1c, J1, J2, G1, G2, I1, Q1a3, and Q1a3a1 through amplification fragments that ranged between 60 and 158bp. Fil: Jurado Medina, Laura Smeldy. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Muzzio, Marina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo; Argentina Fil: Schwab, Marisol Elisabet. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Bravi Costantino, Maria Leticia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Barreto, Guillermo. Universidad del Valle. Fundación Samanea; Colombia Fil: Bailliet, Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina

Published
2014

6. Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene

Author

Kitano, Takashi, Yuasa, Isao, Yamazaki, Kentaro, Nakayashiki, Nori, Miyoshi, Aya, Park, Kyung Sook, and Umetsu, Kazuo

Subjects
*JAPANESE people, *EARWAX, *GENES, *POPULATION genetics
Abstract

Abstract: Allele frequencies for a SNP (rs17822931) and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene were investigated in seven Japanese, one Korean, and one German populations. The SNP will be useful as one of ancestry information markers, because it showed marked difference in frequencies between Asian and European populations. [Copyright &y& Elsevier]

Published
2008
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