SIL1 _ BAP antibody Host Rabbit
- Known as:
- SIL1 _ BAP (anti-) Host Rabbit
- Catalog number:
- 'GTX116756
- Product Quantity:
- 0.1 ml
- Category:
- -
- Supplier:
- ACR
- Gene target:
- SIL1 _ BAP antibody Host Rabbit
Related genes to: SIL1 _ BAP antibody Host Rabbit
- Gene:
- SIL1 NIH gene
- Name:
- SIL1 nucleotide exchange factor
- Previous symbol:
- MSS
- Synonyms:
- BAP, ULG5
- Chromosome:
- 5q31.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-09-01
- Date modifiied:
- 2016-10-05
Related products to: SIL1 _ BAP antibody Host Rabbit
Related articles to: SIL1 _ BAP antibody Host Rabbit
- The catalytic activity of silanol groups in zeolites has long been overlooked because of their much lower acidity compared to Brønsted acid sites. Here, we demonstrate their non-negligible catalytic role in methanol conversion using pure silica MFI zeolite (Silicalite-1). Two silicalite-1 samples with different crystal sizes, micron-sized (Sil1_micro) and nano-sized (Sil1_nano), were synthesized and investigated by in situ and operando FTIR spectroscopy using probe molecules (carbon monoxide, pyridine, and methanol). multivariate-curve regression by alternating least squares was applied to elucidate the influence of the silanol hydrogen-bonding network on catalytic reactivity. Distinct acid-base behaviors were identified: isolated and weakly hydrogen-bonded silanols are active at low temperatures, whereas strongly hydrogen-bonded silanols become catalytically relevant at higher temperatures. Methanol adsorption studies reveal a unique bidentate coordination mode in Sil1_nano, associated with weakly hydrogen-bonded geminal silanols, which promotes the formation of reactive intermediates and dual coke species. In contrast, Sil1_micro, characterized by a higher fraction of strongly hydrogen-bonded silanols, exhibits a different methanol reactivity pattern. These results demonstrate that silanol groups are active functional entities rather than passive defects, capable of driving methanol reforming-like transformations and steering coke formation pathways. - Source: PubMed
Publication date: 2026/05/26
Dalena FrancescoDib EddyAitblal AbdelhafidWu JunweiGhojavand SajjadZapelini IagoPiva Diógenes HonoratoMintova Svetlana - Marinesco-Sjögren Syndrome (MSS) is a rare genetic disorder characterized by cerebellar ataxia, congenital cataracts, and progressive myopathy. Approximately 60% of cases result from SIL1 gene mutations, causing endoplasmic reticulum stress and neuromuscular degeneration. We investigated AAV8-mediated SIL1 gene replacement combined with TAT peptide-mediated protein delivery in the woozy (Sil1) mouse model. Thirty-two female Sil1 mice received either AAV8-SIL1-TAT vector (5 × 10 genome copies) or saline intravenously at 4 weeks of age. The construct enabled liver-produced SIL1 protein uptake by peripheral tissues. Motor performance, cognitive behaviour, and molecular changes were monitored over 20 weeks. Treated mice showed significant motor improvement versus controls. Accelerating rotarod testing revealed delayed motor deficit onset by approximately 3 weeks, with significantly higher performance from weeks 10-14 (p < 0.001). Beam walking assessment showed reduced traversal time and contralateral falls from week 9 onwards. Western blotting and immunohistochemistry confirmed intracellular SIL1 localization in hepatocytes and muscle fibres, but not cerebellum. Quadriceps SIL1 delivery peaked at 2 weeks post-treatment, then gradually declined. Treatment normalized peIF2α and LC3 expression in quadriceps, indicating reduced ER stress and autophagy in skeletal muscle. This study provides proof-of-concept evidence for liver-based protein production combined with cell-penetrating peptides as a viable approach for treating peripheral manifestations of multisystemic disorders, while highlighting the need for alternative CNS delivery strategies for comprehensive therapeutic coverage in MSS. - Source: PubMed
Publication date: 2026/05/02
Bellia FabioRuggieri Anna GiuliaAmodei LauraPotenza FrancescaDufrusine BeatricePanella ValeriaDel Pizzo FrancescoLamolinara AlessiaIezzi ManuelaFederici LucaSallese Michele - : Marinesco-Sjögren syndrome (MSS, MIM #248800) is a condition that is characterized by biallelic pathogenic variants in the gene. Manifestations include congenital cataracts, cerebellar ataxia, progressive muscle weakness and skeletal deformities, delay in psychomotor development, hypergonadotropic hypogonadism and short stature. Muscular involvement has been extensively discussed as a clinical finding but there is little literature on muscle imaging. The aim of this paper is to systematically review muscular imaging techniques in MSS reported in the literature, and to describe the clinical and imaging features of two pediatric subjects with MSS. : Having searched through three electronic databases (PubMed, Scopus and Web of Science) two articles, written in English, describing twelve patients with MSS mutations on whom muscle MRI imaging was performed, were selected. In addition, two paediatric cases (brother and sister) with Marinesco-Sjögren syndrome (MSS) and MRI muscle findings were added. Data on type of study, cohort characteristics, type of mutation, neuromuscular signs and symptoms, imaging assessment, electrophysiological findings, biopsies, CNS symptoms, ocular signs and muscle imaging data were collected and stored in a table. : Of the 239 articles examined, only 3 used a muscle imaging technique to describe myopathy in MSS; one used a CT while another a muscle MRI. All 14 patients showed signs of fatty replacement. The infiltration mainly affected the lower limbs, but involvement in the upper limb was described in some adult patients. : Performing a muscle MRI in MSS can lead to the early identification of muscle involvement and may be a useful biomarker to monitor disease progression. - Source: PubMed
Publication date: 2026/03/02
Buchignani BiancaVega GiadaPasquariello RosaMarinella GemmaTosetti MichelaAstrea GujaBattini Roberta - The congenital dysferlinopathy phenotype is the rarest and earliest manifestation variant, described in two closely related Spanish and Turkish families, with a homozygous pathogenic frameshift variant in exon 26 of the gene. This article presents a 1.6-year-old patient from a consanguineous Uzbek family with a clinical diagnosis of congenital dysferlinopathy phenotype and MarinescoSjögren syndrome with transient postnatal hypotonia, motor development delay, muscle weakness in the flexors of the neck and proximal limbs, convergent strabismus, cerebellar truncal ataxia, minimal intention tremor of the upper limbs, a slight increase in the levels of creatinine phosphokinase (CK) to 353 U/L (2.4×N) and that of myoglobin to 40 µg/mL (2×N). Magnetic resonance imaging (MRI) revealed pronounced edematous changes in the gastrocnemius muscle on short tau inversion recovery (STIR). MRI signs of minimal fat replacement and hypotrophy were noted in the medial and posterior thigh and gastrocnemius muscles. MRI of the head revealed hypoplasia of the vermis and cerebellar hemispheres. Whole-exome sequencing revealed compound heterozygous variants: NM_001130987.2:c.1000 C > T (p.(Arg334Trp)) and NM_001130987.2:c.518 C > T (p.(Thr173Met)), and a previously described homozygous variant NM_022464.5:c.178G > T (p.(Glu60Ter)). Histopathological examination revealed minimal signs of myopathy and dysferlin in only 1% of the muscle fibers. At the ultrastructural level, signs of dysferlinopathy and Marinesco–Sjögren syndrome were detected. This clinical case is an example of the cosegregation of two diseases that mutually potentiate damage to skeletal muscles. - Source: PubMed
Publication date: 2026/03/05
Bardakov Sergey NEmelin Alexey MNikitin Sergey SSuslov Vasiliy МDmitrochenko Ivan VKovalevskaya Irina SKorzun Polina RYakovlev Ivan AIsaev Аrtur АDeev Roman V - Chinese indigenous goat breeds exhibit rich genetic diversity and a long history of domestication, endowing these native populations with superior traits in environmental adaptation, forage utilization, and disease resistance. The identification of selection signatures through comparative genomic analysis could facilitate the understanding of breed differentiation and enables the discovery of functionally important genes. Using whole-genome sequencing data (23.87× Average coverage), we assessed genetic variation, population stratification, runs of homozygosity (ROH), and selection signatures in two Chinese goat breeds: Inner Mongolia cashmere goats (IMCGs, = 200) and Zhongwei goats (ZWGs, = 200). - Source: PubMed
Publication date: 2026/01/20
Han MingxuanRong YoujunWang XinleAo XiaofangShang FangzhengWang ZhiyingSu RuiWang RuijunLiu YongbinZhang Yanjun