| 1. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes
- 2008
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Ingår i: Autophagy. - : Landes Bioscience. - 1554-8627 .- 1554-8635. ; 4:2, s. 151-175
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Forskningsöversikt (refereegranskat)abstract
- Research in autophagy continues to accelerate,1 and as a result many new scientists are entering the field. Accordingly, it is important to establish a standard set of criteria for monitoring macroautophagy in different organisms. Recent reviews have described the range of assays that have been used for this purpose.2,3 There are many useful and convenient methods that can be used to monitor macroautophagy in yeast, but relatively few in other model systems, and there is much confusion regarding acceptable methods to measure macroautophagy in higher eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers of autophagosomes versus those that measure flux through the autophagy pathway; thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from fully functional autophagy that includes delivery to, and degradation within, lysosomes (in most higher eukaryotes) or the vacuole (in plants and fungi). Here, we present a set of guidelines for the selection and interpretation of the methods that can be used by investigators who are attempting to examine macroautophagy and related processes, as well as by reviewers who need to provide realistic and reasonable critiques of papers that investigate these processes. This set of guidelines is not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to verify an autophagic response.
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| 2. |
- Abu-Youssef, Morsy A. M., et al.
(författare)
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New homogeneous and alternating Mn(II)-azido 1D systems
- 2005
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Ingår i: Polyhedron. - : Elsevier BV. - 0277-5387. ; 24:4, s. 557-562
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Tidskriftsartikel (refereegranskat)abstract
- Reaction of sodium azide with manganese(II) and 4-amino-1,2,4-triazol or 3-chloropyridine leads to the 1D systems [Mn(N-3)(2) (4-amtr)(2)](,) (1) or {[Mn(N-3)(2)(3-Clpy)(2)]center dot 1/2(3-Clpy)}(n) (2), respectively. Compound 1 crystallises in the C2/m (monoclinic) group and consists of chains of Mn(II) cations bridged by double mu(1,3)-azido bridges in trans arrangement. Compound 2 crystallises in the I2/a (monoclinic) group and in this case the 1D system shows alternating double mu(1,1) and mu(1,3) bridges. Magnetic properties follow the expected antiferromagnetic (compound 1) and alternating ferro-antiferromagnetic (compound 2) behaviour. (c) 2005 Published by Elsevier Ltd.
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| 3. |
- Abu-Youssef, Morsy A. M., et al.
(författare)
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Synthesis, structure, network and thermal analysis of four 5-(pyrazinyl)tetrazolato copper(II) and cobalt(II) complexes
- 2007
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Ingår i: Polyhedron. - : Elsevier BV. - 0277-5387. ; 26:7, s. 1531-1540
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Tidskriftsartikel (refereegranskat)abstract
- Three new copper complexes and one cobalt complex with 5-(pyrazinyl)tetrazolate anion, (pyztz)(-), as chelating bidentate ligand, were obtained by the reaction of pyrazinecarbonitrile with sodium azide in the presence of copper(II) nitrate or cobalt(II)chloride. Complexes of composition [Cu(pyztz)(2)(H2O)] (1) deep blue crystals, [Cu(pyztz)(2)(H2O)(2)] (2a) green crystals, [Co(pyztz)(2)(H2O)(2)] (2b) orange crystals, [Cu(pyztz)2(H2O)(2)] center dot (H2O) (3) blue crystals were obtained. The single crystal X-ray diffraction revealed that complex I has square pyramidal structure with one water molecule at apical and two pyrazine-tetrazolato ligands at basal sites, while structures of 2a, 2b and 3 consist of octahedrally coordinated metal ions, where two pyztz anions act as bidentate ligands via one of the pyrazine-N atoms and one of the tetrazole-N atoms in trans-positions and two trans water molecules. Complex 3 contains one extra lattice water molecule. Hydrogen bonds of the types O-H center dot center dot center dot O and O-H center dot center dot center dot N connect the mononuclear units to a three-dimensional network structure in 2 (a and b are isostructural) and 3. Although the H-bond patterns look complex it is shown that they can be related to the well-known three- and six-connected rutile net (rtl) in 2 and the four- and six-connected fsh-net in 3. (C) 2006 Elsevier Ltd. All rights reserved.
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| 4. |
- Legius, E., et al.
(författare)
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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
- 2021
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 23, s. 1506-1513
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Tidskriftsartikel (refereegranskat)abstract
- Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.
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| 5. |
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| 6. |
- Mautner, F. A., et al.
(författare)
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1D and 3D coordination polymers with the M(mu(1),mu(1)-X)(2)M motif (M = Na, Zn, Cd): Observation of a linear [Na(H2O)(4)](n)(n+) cation and a five-connected sqp-net
- 2007
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Ingår i: Polyhedron. - : Elsevier BV. - 0277-5387. ; 26:12, s. 2703-2712
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Tidskriftsartikel (refereegranskat)abstract
- Three polymeric complexes [Zn(pydz)(N-3)(SO4)](n)[Na(H2O)(4)](n)(H2O)(4n) (1), [Cd(3-ampy)(N-3)Cl](n) (2), and [Cd(DENA)Cl-2(H2O)](n)(3), (pydz = pyridazine or 1,2-diazine, 3-ampy = 3-aminopyridine, DENA = NN-diethylnicotineamide) have been synthesized and characterized by spectral and structural methods and their network topologies analysed. Complex 1 crystallizes in monoclinic C-centred space group C2/m, the Zn(1) center is octahedrally coordinated; and simultaneously bridged by EO-azido, NN'-pydz, and O,O'-sulphato ligands. The ZnN4O2-octahedra form a ID anionic chain along b-axis. The Na(OH2)(6)-octahedra have also common water molecules, thus also forming a 1D chain along b-axis. The cationic and anionic chains are connected via hydrogen bonds of type O-H...O including lattice water molecules to form a supramolecular 3D network structure. In complex 2, the Cd(1) is six-coordinated by two EE-bridging azide groups, and two nitrogen atoms of bridging NN', 3-ampy ligand, and two bridging chloro ligands. The three different bridging ligands connect the distorted octahedra of the Cd(II) centres to form a 3D network structure with the topology of a square pyramidal net (4(3) (.) 6(6)-sqp). The centrosymmetric Cd2Cl2-rings are planar and the NH2- of the 3-ampy groups forms additional hydrogen bonds of type N-H...N to the adjacent azido groups. In complex 3, the octahedrally coordinated Cd(1) centres are occupied by alternating monodentate DENA ligand and a water molecule and the other four sites are occupied by four bridging chloro ligands. Thus the Cd2Cl2-rings form common edges to form 1D chains of Cd(II) octahedra along the b-axis of the monoclinic unit cell. 2D supramolecular sheets extended along the bc-planes of the unit cell are formed by the 0-H...O hydrogen bond. The IR spectra of the three complexes were measured and they confirm the X-ray structural data. (C) 2007 Elsevier Ltd. All rights reserved.
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| 7. |
- Bausch, Birke, et al.
(författare)
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Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
- 2007
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 92:7, s. 2784-92
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Neurofibromatosis type 1 (NF1) is a pheochromocytoma-associated syndrome. Because of the low prevalence of pheochromocytoma in NF1, we ascertained subjects by pheochromocytoma that also had NF1 in the hope of describing the germline NF1 mutational spectra of NF1-related pheochromocytoma.MATERIALS AND METHODS: An international registry for NF1-pheochromocytomas was established. Mutation scanning was performed using denaturing HPLC for intragenic variation and quantitative PCR for large deletions. Loss-of-heterozygosity analysis using markers in and around NF1 was performed.RESULTS: There were 37 eligible subjects (ages 14-70 yr). Of 21 patients with corresponding tumor available, 67% showed somatic loss of the nonmutated allele at the NF1 locus vs. 0 of 12 sporadic tumors (P = 0.0002). Overall, 86% of the 37 patients had exonic or splice site mutations, 14% large deletions or duplications; 79% of the mutations are novel. The cysteine-serine rich domain (CSR) was affected in 35% but the RAS GTPase activating protein domain (RGD) in only 13%. There did not appear to be an association between any clinical features, particularly pheochromocytoma presentation and severity, and NF1 mutation genotype.CONCLUSIONS: The germline NF1 mutational spectra comprise intragenic mutations and deletions in individuals with pheochromocytoma and NF1. NF1 mutations tended to cluster in the CSR over the RAS-GAP domain, suggesting that CSR plays a more prominent role in individuals with NF1-pheochromocytoma than in NF1 individuals without this tumor. Loss-of-heterozygosity of NF1 markers in NF1-related pheochromocytoma was significantly more frequent than in sporadic pheochromocytoma, providing further molecular evidence that pheochromocytoma is a true component of NF1.
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| 8. |
- Mautner, F. A., et al.
(författare)
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New Topology in Azide-Bridged Cobalt(II) Complexes: the Weak Ferromagnet Co-2(N-3)(4)(Hexamethylenetetramine)(H2O) (n)
- 2009
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Ingår i: Inorganic Chemistry. - : American Chemical Society (ACS). - 0020-1669 .- 1520-510X. ; 48:13, s. 6280-6286
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Tidskriftsartikel (refereegranskat)abstract
- The new polynuclear azido-bridged Co(II) compound with formula [Co-2(N-3)(4)(HMTA)(H2O)](n). (1)(HMTA = hexamethylenetetramine) shows a complex 3D structure. To best understand the structure, a network analysis for 1 as bulk compound and also an analysis of the magnetic network has been made, emerging with a new network topology.
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