Disease relevance of BCS1L

• GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L [1].
• GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism [1].
• The gene (garB) encoding the central enzyme in glutathione amide cycling, glutathione amide reductase (GAR), has been isolated from Chromatium gracile, and its genomic organization has been examined [2].
• Primary structures of high potential, four-iron-sulfur ferredoxins from the pruple sulfur photosynthetic bacteria, Thiocapsa roseopersicina and chromatium gracile [3].
• Gracile neuroaxonal dystrophy (NAD) is a hallmark of the aging human and rodent sensory nervous systems which may represent an abnormal transganglionic response to peripheral axonal injury [4].

Psychiatry related information on BCS1L

• Antigen was found in the spinal cord gray and white matter sensory neuronal circuits of nociception (the spinothalamic tract) and proprioception (the dorsal spinocerebellar tract and gracile fasciculus) [5].
• A new theory of stereopsis is proposed that predicts how cells sensitive to multiple spatial frequencies, disparities, and orientations are combined by context-sensitive filtering, competition, and cooperation to form coherent BCS boundary segmentations [6].
• Homologous properties of the motion BCS and the static BCS, specialized to process motion directions and static orientations, respectively, support a unified explanation of many data about static form perception and motion form perception that have heretofore been unexplained or treated separately [7].
• Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome [8]?
• METHODS: Self-administered questionnaire assessing body image perception, social habits, sexual attraction and self-consciousness with relatives/friends, was randomly assigned to 125 patients (61 BCS, 64 MRM; aged 53 +/- 8 and 50 + 9 years, respectively, p = NS) [9].

High impact information on BCS1L

• Neuropathological studies carried out in two of the three fatal cases revealed degeneration of the posterior column, selective loss of large-caliber, myelinated axons in peripheral nerve, and spheroids in the gracile and cuneate nuclei [10].
• ATD6-96 is the left half of a gracile mandible belonging to a probably female adult individual with premolars and molars in place [11].
• In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants [1].
• BCS1L, a mitochondrial inner-membrane protein, is a chaperone necessary for the assembly of mitochondrial respiratory chain complex III [1].
• Four different mutations in the BCS1L gene have been reported elsewhere, in Turkish patients with a distinctly different phenotype [1].

Chemical compound and disease context of BCS1L

• Axonal dystrophy in the gracile nucleus in congenital biliary atresia and cystic fibrosis (mucoviscidosis): beneficial effect of vitamin E therapy [12].
• The NMR spectra of the high-potential iron protein from the photosynthetic bacterium Chromatium gracile and its ruthenium-labeled (His-42 and His-20) derivatives are reported [13].
• This toxicity could be counteracted by the addition of catalase, pyruvate or bathocuproine disulfonate (BCS), all of which interfere with the production of hydrogen peroxide [14].
• 1H NMR characterization of Chromatium gracile high-potential iron protein and its ruthenium-modified derivatives. Modulation of the reduction potentials in low- and high-potential [Fe4S4] ferredoxins [13].
• Crystals of the GAR enzyme from Chromatium gracile have been grown at 294 K by the hanging-drop vapour-diffusion method using lithium sulfate as a precipitant in the presence of nickel ions [15].

Biological context of BCS1L

• Here, we analysed the expression of BCS1L during mouse embryonic development and compared its expression with that of the mitochondrial markers Porin, GRIM19, Core I, and Rieske FeS [16].
• Given that both Uch-L1gad and Uch-L3Delta3-7 single homozygotes display distinct degenerative defects that are exacerbated in the double homozygotes, we conclude that Uch-L1 and Uch-L3 have both separate and overlapping functions in the maintenance of neurons of the gracile tract, NTS and AP [17].
• The nucleotide sequences of 5S rRNAs from two ribbon worms: Emplectonema gracile contains two 5S rRNA species differing considerably in their sequences [18].
• The observation that the DRG parent neurons of the degenerate gracile tracts in AMN undergo atrophy and do not display appreciable evidence of cell death, even at autopsy, provides a wide window of opportunity for the development of therapeutic strategies to combat or prevent this myeloneuropathy [19].
• BACKGROUND: The extension of biowaivers (drug product approval without a pharmacokinetic bioequivalence study) to drugs belonging to Class III of the Biopharmaceutics Classification System (BCS) is currently a subject of much discussion [20].

Anatomical context of BCS1L

• Pulse-chase experiments performed in COS-1 cells indicated that the S78G amino acid change results in instability of the polypeptide, and yeast complementation studies revealed a functional defect in the mutated BCS1L protein [1].
• The predominant expression of BCS1L in this region, together with its presence in peripheral ganglia from E13 onwards, indicates a role for BCS1L in the development of neural structures [16].
• At E11, BCS1L, Porin, and Rieske FeS had overlapping expression patterns in organs known to contain high numbers of mitochondria such as heart, liver and somites [16].
• A similar projection from the midthoracic spinal cord ends in the gracile and cuneate nuclei [21].
• The humeral diaphysis indicates a gradual reduction in habitual load levels from Eurasian late archaic, to Early Upper Paleolithic early modern, to Middle Upper Paleolithic early modern hominids, with the Levantine Middle Paleolithic early modern humans being a gracile anomalous outlier [22].

Associations of BCS1L with chemical compounds

• Blockade of transmission of visceral nociceptive signals through the rat sacral cord by microdialysis administration of morphine or 6-cyano-7-nitroquinoxaline-2,3-dione shows that postsynaptic DC neurons in the sacral cord transmit visceral nociceptive signals to the gracile nucleus [21].
• Coupling between the collective BCS pairing mode and individual Cooper pair states can make the latter either synchronize or dephase [23].
• In this Letter, we use a mean-field approach to the tt;{'}t;{''}J model in order to address the features in these spectra that deviate from the BCS paradigm, namely, the bias sign asymmetry at high bias, the generic lack of evidence for the van Hove singularity, and the absence of coherence peaks at low dopings [24].
• According to a BCS-like estimate, metallic silane should be a high-temperature superconductor [25].
• Experiments used the BCS density of states in superconducting niobium for transparency distribution probing [26].

Physical interactions of BCS1L

• According to fluorescence-activated cell sorting and confocal microscopic analysis, BCS-1 was bound to HCCR antigen on the cell surface [27].

Other interactions of BCS1L

• These results show that the expression pattern of BCS1L only partially overlaps with the expression of Porin and Rieske FeS [16].
• Thus, BCS1L alone or in cooperation with Rieske FES may during development have previously unknown functions beside its role in assembly of complex III [16].
• The epitope regions of HCCR recognized by monoclonal antibody (BCS-1) were HFWTPK and QQTDFLDIYHAFR [27].
• Based on these data, ABCB6 is not the causative gene for GRACILE syndrome [28].
• In a 77-year-old man who underwent leg amputation, the gracile nucleus on the amputated side was gliotic and showed several NPY and ubiquitin-immunoreactive spheroids, which were not seen in the contralateral non-transected side [29].

Analytical, diagnostic and therapeutic context of BCS1L

• Specific primers for the PCR amplification of a 223-bp region on the sequence encoding the 31-kDa immunogenic Brucella abortus protein (BCSP 31) were used [30].
• We used random-effects modeling to account for the multilevel dataset and evaluated 2 outcomes: 1) primary surgical treatment (mastectomy vs. BCS); and 2) receipt of reconstruction before being surveyed (yes vs. no) [31].
• Transganglionic gracile response following limb amputation in man [29].
• The outcome measure is a 3-category variable defined as (1) mastectomy (MAST), (2) breast-conserving surgery plus radiation therapy (BCS+RT), or (3) BCS alone [32].
• The North Carolina Breast Cancer Screening Program (NC-BCSP) was established to increase the rate of regular mammography screening by an absolute 20% in 3 years among older Black women ages 50 and older in five rural counties in the eastern part of the state [33].

References