Hydrogen-Tolerant LaCaCoFeO Oxygen Transport Membranes from Ultrasonic Spray Synthesis for Plasma-Assisted CO Conversion.

LaCaCoFeO in its various compositions has proven to be an excellent CO-resistant oxygen transport membrane that can be used in plasma-assisted CO conversion. With the goal of incorporating green hydrogen into the CO conversion process, this work takes a step further by investigating the compatibility of LaCaCoFeO membranes with hydrogen fed into the plasma. This will enable plasma-assisted conversion of the carbon monoxide produced in the CO reduction process into green fuels, like methanol.

Peptide Controlled Shaping of Biomineralized Tin(II) Oxide into Flower-Like Particles.

The size and morphology of metal oxide particles have a large impact on the physicochemical properties of these materials, e.g., the aspect ratio of particles affects their catalytic activity.

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum.

Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment).

Design, Setting, And Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations.

Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or postures. Several genetic causes of dystonia have been elucidated but genetic causes of dystonia specifically affecting females have not yet been described. In the present study, we investigated a large dystonia family from New Zealand in which only females were affected.

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.

A three-nucleotide (GAG) deletion (ΔE) in TorsinA (TOR1A) has been identified as the most common cause of dominantly inherited early-onset torsion dystonia (DYT1). TOR1A encodes a chaperone-like AAA+-protein localized in the endoplasmic reticulum. Currently, only three additional, likely mutations have been reported in single dystonia patients.

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.

DYTCA is a syndrome that is characterized by predominant dystonia and mild cerebellar ataxia. We examined two affected siblings with healthy, consanguineous, Turkish parents. Both patients presented with a combination of childhood-onset cerebellar ataxia, dystonia, and sensory axonal neuropathy.

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

The role of single heterozygous mutations in the putatively recessive Parkin gene in Parkinson disease (PD) is a vividly debated issue, partly caused by the largely unknown frequency of these mutations in healthy individuals. We investigated mutations in all 12 Parkin exons in 356 controls from two European populations including individuals from South Tyrol and Germany. None of the controls carried a homozygous or compound heterozygous mutation.

Myoclonus-dystonia: significance of large SGCE deletions.

Myoclonus-dystonia (M-D) is an autosomal-dominant movement disorder caused by mutations in SGCE. We investigated the frequency and type of SGCE mutations with emphasis on gene dosage alterations and explored the associated phenotypes. We tested 35 M-D index patients by multiplex ligation-dependent probe amplification (MLPA) and genomic sequencing.

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Recessively inherited early-onset parkinsonism (EOP) has been associated with mutations in the Parkin, DJ-1, and PINK1 genes. We studied the prevalence of mutations in all three genes in 65 Italian patients (mean age of onset: 43.2+/-5.

High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.

Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families. We tested 23 individuals with DRD for the different mutation types by conventional and quantitative PCR analyses and found mutations, including two large exon deletions, in 87%.

Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.

Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.

Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations.

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.

Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%.

Differential dependence of the infectivity of HIV-1 group O isolates on the cellular protein cyclophilin A.

The cellular protein Cyclophilin A (Cyp A) is packaged into human immunodeficiency virus type 1 (HIV-1) particles through a specific interaction with the capsid domain of the Gag polyprotein. Inhibition of Cyp A incorporation by mutagenesis or cyclosporin treatment severely affects infectivity of all HIV-1 M subtypes tested. In contrast, the closely related lentiviruses HIV-2 and simian immunodeficiency virus (SIV) do not package Cyp A and are not inhibited by cyclosporin.

Mouse-human heterokaryons support efficient human immunodeficiency virus type 1 assembly.

Murine cells do not support human immunodeficiency virus type 1 (HIV-1) replication because of blocks to virus entry, proviral expression, and virion assembly. In murine 3T3 fibroblasts, the block to HIV-1 entry is relieved by the introduction of human CD4 and CCR5 or CXCR4, and proviral expression is increased by the introduction of the Tat cofactor, human cyclin T1; however, because of the assembly block, virus fails to spread. A panel of rodent cell lines expressing human CD4, CCR5, and cyclin T1 was established and studied for the ability to support virus replication.

A conformational switch controlling HIV-1 morphogenesis.

Assembly of infectious human immunodeficiency virus type 1 (HIV-1) proceeds in two steps. Initially, an immature virus with a spherical capsid shell consisting of uncleaved Gag polyproteins is formed. Extracellular proteolytic maturation causes rearrangement of the inner virion structure, leading to the conical capsid of the infectious virus.

Cyclophilin A incorporation is not required for human immunodeficiency virus type 1 particle maturation and does not destabilize the mature capsid.

The cellular protein cyclophilin A (CypA) is packaged into human immunodeficiency virus type 1 (HIV-1) virions through a specific interaction with the capsid (CA) domain of the Gag polyprotein. CypA is important for infectivity, but its role in viral replication is currently unknown. Previous reports suggested that CypA promotes uncoating or enhances maturation.

Sequential steps in human immunodeficiency virus particle maturation revealed by alterations of individual Gag polyprotein cleavage sites.

Retroviruses are produced as immature particles containing structural polyproteins, which are subsequently cleaved by the viral proteinase (PR). Extracellular maturation leads to condensation of the spherical core to a capsid shell formed by the capsid (CA) protein, which encases the genomic RNA complexed with nucleocapsid (NC) proteins. CA and NC are separated by a short spacer peptide (spacer peptide 1 [SP1]) on the human immunodeficiency virus type 1 (HIV-1) Gag polyprotein and released by sequential PR-mediated cleavages.

Mapping of antigenic domains in poliovirus VP1 involved in structural rearrangements during virus morphogenesis and antigenic alterations of the virion.

Monoclonal antibodies (mAbs) directed against linear epitopes of the structural polypeptide VP1 of poliovirus type 1, Mahoney (PV1M), were used as sensitive tools to evaluate the accessibility of certain amino acid residues, both during virus morphogenesis and after conformational transitions of the capsid resulting from heat treatment (H- or 80S particles) and cell-receptor interaction (A- or 135S particles). Antibody binding sites were mapped by immunoblotting of VP1 fragments after procaryotic expression and by introduction of nested sets of deletions into recombinant VP1. The binding sites clustered at the amino- and carboxy-termini of the polypeptide, respectively.

Revertants of poliovirus escape mutants: new insights into antigenic structures.

Poliovirus variants that escape neutralization by monoclonal antibodies (mAbs) have previously been selected and characterized in order to determine antigenic sites on the surface of the virion. Phenotypic revertants of poliovirus type 1 escape mutants were selected within all three antigenic sites (sites 1, 2, and 3) on the basis of their reactivity with the selecting mAb. The phenotypic and genotypic properties of these revertants were determined by binding and neutralization assays.

Molecular basis of antigenic structures of poliovirus: implications for their evolution during morphogenesis.

Neutralizing monoclonal antibodies against poliovirus type 1 were obtained after conventional immunization or combined in vivo-in vitro immunization. Antibody binding sites were determined by sequence analysis of neutralization-resistant mutants. Site 3 variants had several amino acid substitutions in previously unidentified positions for neutralization resistance.

A new antigenic site of poliovirus recognized by an intertypic cross-neutralizing monoclonal antibody.

A monoclonal antibody (mAb 7J6) neutralizing poliovirus type 2 (PV2) and poliovirus type 1 (PV1) was obtained after immunization of BALB/c mice with infectious PV2, strain MEF-1. Preincubation of mAb 7J6 with PV1 inhibited its binding to PV2 and vice versa. Neutralization-resistant variants of PV2 and PV1 were selected.