SMN1 Mouse Monoclonal Antibody
- Known as:
- SMN1 Mouse Monoclonal Antibody
- Catalog number:
- ENZ-006606-M01
- Product Quantity:
- 0.1mg
- Category:
- -
- Supplier:
- Zyagen
- Gene target:
- SMN1 Mouse Monoclonal Antibody
Related genes to: SMN1 Mouse Monoclonal Antibody
- Gene:
- SMN1 NIH gene
- Name:
- survival of motor neuron 1, telomeric
- Previous symbol:
- SMA@, SMA
- Synonyms:
- BCD541, SMNT, SMA1, SMA2, SMA3, GEMIN1, TDRD16A
- Chromosome:
- 5q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1996-12-12
- Date modifiied:
- 2019-04-23
Related products to: SMN1 Mouse Monoclonal Antibody
Related articles to: SMN1 Mouse Monoclonal Antibody
- Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by bi-allelic pathogenic variants in , leading to motor neuron degeneration, muscle atrophy and progressive weakness. Although disease-modifying therapies have recently become available, reliable biomarkers for disease monitoring remain limited. This study aimed to identify potential biomarkers of disease severity and monitoring in SMA using an unbiased approach based on differential gene expression datasets. A meta-analysis of datasets from 15 studies in SMA mouse models identified genes differentially expressed in at least three studies. Of the 134 differentially expressed genes, 122 had human orthologs, with only two being CNS-specific and consistently altered across studies, including glial fibrillary acidic protein (GFAP), a marker of astrocyte reactivity. Candidate gene expression was subsequently evaluated in two human datasets. GFAP and neurofilament light chain (NfL) serum levels were then measured in a case-control study including 25 SMA patients (11 type 1, 14 types 2/3) and 24 matched controls, followed by a 12-month cohort study of the SMA patients. GFAP levels in cerebrospinal fluid (CSF) were assessed in 14 patients before and up to 14 months after initiation of disease-modifying therapies. Serum GFAP levels were lower in SMA patients compared with controls ( = 0.014), but higher in those with SMA type 1 ( = 0.028) and in patients with two copies ( = 0.03). Patients under disease-modifying treatment exhibited higher baseline GFAP levels ( = 0.01). CSF GFAP levels decreased after 14 months of treatment in SMA type 1 and in pre-symptomatic patients predicted to develop type 1 ( = 0.045). NfL levels were elevated in SMA patients, correlating with disease severity and genotype, and further increased over 12 months. Taken together, this study, employing an unbiased biomarker discovery strategy, identified GFAP as a candidate biomarker for SMA. Clinical validation demonstrated reduced serum GFAP levels, which correlated with disease type, copy number and treatment status. In SMA type 1, CSF GFAP levels declined over time with treatment. These findings implicate astrocytes in SMA-related neurodegeneration and support GFAP as a potential biomarker for the disease. - Source: PubMed
Publication date: 2026/09/11
Soares de Oliveira Karina LúciaWeber Arthur CarpeggianiBecker Michele MichelinMagalhães Juliana Silva de Almeidade Albuquerque Ana Letícia AmorimChadanowicz Júlia KerstingGiudicelli Giovanna CâmaraRohden FrancieliZimmer Eduardo RigonKowalski Thayne WoycinckSiebert MarinaCosta Marcela Câmara MachadoSaute Jonas Alex - : Global developmental delay (GDD) affects multiple domains of early childhood development, including gross motor, cognitive and communication skills. Early, intensive, family-centered rehabilitation is considered key to optimizing functional outcomes in affected children. : We report a female child with GDD who began rehabilitation at our institution at 15 months of age, presenting with generalized hypotonia with superimposed fluctuating episodes of hypertonia, poor postural control, absent independent sitting, markedly reduced spontaneous motor activity, and associated cognitive and communication delay. Brain MRI at 7 months showed no parenchymal abnormality, with mildly enlarged extracerebral cerebrospinal fluid spaces and ventricular system. The metabolic and genetic evaluation performed so far, including microarray/MLPA-based screening for common microdeletion syndromes and SMN1/SMN2 genotyping, has not identified a specific underlying etiology. Diagnostic work-up is ongoing. Rehabilitation was delivered as a comprehensive, multidomain program; this report focuses specifically on the child's motor progression. : The child underwent the Early Intensive Stojčević-Polovina Rehabilitation Method (EIR-SPM), a high-intensity, continuous approach for children with cerebral palsy, at-risk infants, and other developmental disabilities, built on parental education enabling home-based continuity of therapy. Rehabilitation focus is selected according to the child's optimal developmental stage-the milestone showing the least abnormal movement patterns and muscle tone-rather than chronological age, with positions progressively adjusted following the trajectory of typical motor development described by Vojta. : Gross motor function, monitored using the Gross Motor Function Measure-88 (GMFM-88) at four assessment points from 15 months to 6 years 6 months of age, improved progressively from 10.8% to 48.9%, 64.7%, and finally 73.9%. The child achieved independent kneeling, reciprocal crawling, independent sitting in all positions, independent standing and assisted stepping. : In this child with GDD of undetermined etiology, more than five years of intensive, family-centered rehabilitation according to the EIR-SPM were accompanied by substantial and sustained gains in gross motor function and functional independence. This report suggests that meaningful progress remains achievable even when rehabilitation begins later than the period considered optimal within the EIR-SPM framework, and that a family-centered structure may be what makes therapy of this intensity and duration sustainable. - Source: PubMed
Publication date: 2026/09/09
Erceg JelenaPolovina SvetislavPolovina AndreaDobrijević EmaGjergja Juraški Romana - Newborn screening (NBS) facilitates the presymptomatic diagnosis and early treatment of spinal muscular atrophy (SMA). An analytical study was conducted to evaluate the performance and limitations of a real-time polymerase chain reaction-based SMA-NBS assay. Dried blood spot specimens collected from 21 newborns and three patients with genetically confirmed SMA were analyzed. The SMA controls included two patients with homozygous deletion and one with compound heterozygous variants. exon 7 copy numbers were quantified and interpreted. All newborn participants had copy numbers above the screening cutoff value of 668 copies/µL and were classified as screening-negative. The two SMA controls with homozygous deletion showed no detectable amplification, which is consistent with positive screening results. In contrast, the compound heterozygous SMA control exhibited a mean value of 7330 copies/µL, which was more than tenfold above the screening cutoff and would therefore have been classified as screening-negative; this value also fell within the range observed in the newborn cohort. This patient had a negative NBS result at birth despite subsequently developing genetically confirmed SMA. The SMA-NBS assay accurately detected patients with homozygous deletion. However, it did not identify patients with compound heterozygous variants. In conclusion, deletion-based SMA-NBS has an inherent false-negative limitation, and a negative screening result does not completely exclude an SMA diagnosis. - Source: PubMed
Publication date: 2026/08/31
Abe YuichiSuzuki-Muromoto SatoKosuga MotomichiIsayama TetsuyaTajima GoAoki YasuhitoIshige NobuyukiIto Yushi - Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder caused predominantly by homozygous deletion of , resulting in degeneration of lower motor neurons and progressive muscle weakness and atrophy. In recent years, newborn screening programs for SMA using dried blood spots and PCR-based assays have been introduced in several countries, enabling presymptomatic diagnosis and earlier initiation of therapy. However, newborn screening does not eliminate the need for diagnostic testing in routine clinical practice, because adolescents and adults with milder or ambulant phenotypes may still present only after symptom onset and may experience diagnostic delay. We therefore developed a single-tube nested PCR (STNPCR) method as a practical diagnostic approach for symptomatic patients with suspected SMA. This method enables detection of homozygous deletions using only standard PCR procedures and gel electrophoresis and may help identify patients with SMA who are not captured by newborn screening. Our assay using dried blood spot samples demonstrated preliminary technical feasibility in this proof-of-concept cohort, although further validation in larger independent cohorts will be required before its diagnostic utility can be established. - Source: PubMed
Publication date: 2026/08/31
Kosaka AyanoSakima MakotoNoguchi YorikoShiroshita TomoyoshiAoki YasuhitoOtsuka YoshihikoBouike YoshihiroNishio Hisahide - Spinal Muscular Atrophy (SMA) is caused by a deficiency of the survival motor neuron (SMN) protein due to loss of and inefficient compensation by This genetic architecture has driven the development of precision therapeutics. Over the past decade, SMA management has progressed from supportive care to RNA-based splicing modulation and gene replacement therapy. - Source: PubMed
Publication date: 2026/09/23
Cetin BusraAliciaslan MelikeErbasan EzgiCesur Ergun BusraSanlioglu Salih