Hledali jste: spinal

Katalogové číslo: (BOSSBS-11561R-CY7)

Dodavatel: Bioss

Popis: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the Spinal cord. SMA is caused by deletion or loss-of-function mutations of SMN (survival of motor neuron) gene. SMN, also known as Gemin1, SMN1, SMNT and BCD541, exists as four isoforms produced by alternative splicing. SMN is oligomeric and forms a complex with Gemin2 (formerly SIP1), Gemin3 (a DEAD box RNA helicase), Gemin4, Gemin5 and Gemin6, as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in splicesomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (gemini of the coiled bodies). Cytoplasmic SMN interacts with spliceosomal Sm proteins and facilitates their assembly onto U snRNAs, and nuclear SMN mediates recycling of pre-mRNA splicing factors. Nearly identical telomeric and centromeric forms of SMN encode the same protein; however, only mutations in the telomeric form are associated with the disease-state SMA. SMN is expresed in a wide variety of tissues including brain, kidney, liver, Spinal cord and moderately in skeletal and cardiac muscle.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-11561R-A750)

Dodavatel: Bioss

Popis: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterised by loss of motor neurons in the Spinal cord. SMA is caused by deletion or loss-of-function mutations of SMN (survival of motor neuron) gene. SMN, also known as Gemin1, SMN1, SMNT and BCD541, exists as four isoforms produced by alternative splicing. SMN is oligomeric and forms a complex with Gemin2 (formerly SIP1), Gemin3 (a DEAD box RNA helicase), Gemin4, Gemin5 and Gemin6, as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in splicesomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (gemini of the coiled bodies). Cytoplasmic SMN interacts with spliceosomal Sm proteins and facilitates their assembly onto U snRNAs, and nuclear SMN mediates recycling of pre-mRNA splicing factors. Nearly identical telomeric and centromeric forms of SMN encode the same protein; however, only mutations in the telomeric form are associated with the disease-state SMA. SMN is expressed in a wide variety of tissues including brain, kidney, liver, Spinal cord and moderately in skeletal and cardiac muscle.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-4227R-CY5.5)

Dodavatel: Bioss

Popis: VAPB contains 1 MSP domain and it may play a role in vesicle trafficking. Defects in VAPB are a cause of proximal adult autosomal dominant spinal muscular atrophy [MIM:182980]; also called late onset spinal muscular atrophy Finkel type. spinal muscular atrophies are neurodegenerative disorders characterized by degeneration of lower motor neurons, leading to progressive paralysis muscular atrophy. This form is a late adult onset form of the disease (after age 20 years). The patients show a benign course, most of them remaining ambulatory 10 to 40 years after clinical onset.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-11757R-HRP)

Dodavatel: Bioss

Popis: IGHMBP2 is a 993 amino acid nuclear and cytoplasmic protein that is ubiquitously expressed. Belonging to the DNA2/NAM7 helicase family, IGHMBP2 is a 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. IGHMBP2 also acts as a transcriptional regulator and is necessary for transcriptional activation of the flounder liver-type antifreeze protein gene. IGHMBP2 exists as a homooligomer and is part of the cytosolic ribonucleoprotein complex. Mutations in the gene encoding IGHMBP2 are suggested to lead to distal hereditary motor neuronopathy type 6 (HMN6), also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1). HMN6 is characterized by weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs and severe respiratory distress.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15047R-CY5)

Dodavatel: Bioss

Popis: C1orf187, also known as Draxin, Dorsal repulsive axon guidance protein and Neucrin, is a 349 amino acid secreted protein that is required of the development of the spinal cord and forebrain commissures. C1orf187 acts as a chemorepulsive guidance protein and directs commissural axons during development by repelling neurite outgrowth from the spinal cord. During development, C1orf187 modulates neural crest migration by reducing the polarization of these cells, leading to reduced velocity of migration and increased frequency of changing direction, leading to a net decrease in migrational distance. It acts as an antagonist of the Wnt signaling pathway by inhibiting the stabilization of cytosolic _-catenin via its interaction with LRP6. C1orf187 inhibits outgrowth from the olfactory bulb and likely contributes to the formation of the lateral olfactory tract.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-11757R-A350)

Dodavatel: Bioss

Popis: IGHMBP2 is a 993 amino acid nuclear and cytoplasmic protein that is ubiquitously expressed. Belonging to the DNA2/NAM7 helicase family, IGHMBP2 is a 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. IGHMBP2 also acts as a transcriptional regulator and is necessary for transcriptional activation of the flounder liver-type antifreeze protein gene. IGHMBP2 exists as a homooligomer and is part of the cytosolic ribonucleoprotein complex. Mutations in the gene encoding IGHMBP2 are suggested to lead to distal hereditary motor neuronopathy type 6 (HMN6), also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1). HMN6 is characterized by weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs and severe respiratory distress.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-11757R-A488)

Dodavatel: Bioss

Popis: IGHMBP2 is a 993 amino acid nuclear and cytoplasmic protein that is ubiquitously expressed. Belonging to the DNA2/NAM7 helicase family, IGHMBP2 is a 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. IGHMBP2 also acts as a transcriptional regulator and is necessary for transcriptional activation of the flounder liver-type antifreeze protein gene. IGHMBP2 exists as a homooligomer and is part of the cytosolic ribonucleoprotein complex. Mutations in the gene encoding IGHMBP2 are suggested to lead to distal hereditary motor neuronopathy type 6 (HMN6), also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1). HMN6 is characterized by weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs and severe respiratory distress.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15047R-HRP)

Dodavatel: Bioss

Popis: C1orf187, also known as Draxin, Dorsal repulsive axon guidance protein and Neucrin, is a 349 amino acid secreted protein that is required of the development of the spinal cord and forebrain commissures. C1orf187 acts as a chemorepulsive guidance protein and directs commissural axons during development by repelling neurite outgrowth from the spinal cord. During development, C1orf187 modulates neural crest migration by reducing the polarization of these cells, leading to reduced velocity of migration and increased frequency of changing direction, leading to a net decrease in migrational distance. It acts as an antagonist of the Wnt signaling pathway by inhibiting the stabilization of cytosolic _-catenin via its interaction with LRP6. C1orf187 inhibits outgrowth from the olfactory bulb and likely contributes to the formation of the lateral olfactory tract.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-11757R-A750)

Dodavatel: Bioss

Popis: IGHMBP2 is a 993 amino acid nuclear and cytoplasmic protein that is ubiquitously expressed. Belonging to the DNA2/NAM7 helicase family, IGHMBP2 is a 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. IGHMBP2 also acts as a transcriptional regulator and is necessary for transcriptional activation of the flounder liver-type antifreeze protein gene. IGHMBP2 exists as a homooligomer and is part of the cytosolic ribonucleoprotein complex. Mutations in the gene encoding IGHMBP2 are suggested to lead to distal hereditary motor neuronopathy type 6 (HMN6), also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1). HMN6 is characterised by weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs and severe respiratory distress.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15047R-A555)

Dodavatel: Bioss

Popis: C1orf187, also known as Draxin, Dorsal repulsive axon guidance protein and Neucrin, is a 349 amino acid secreted protein that is required of the development of the spinal cord and forebrain commissures. C1orf187 acts as a chemorepulsive guidance protein and directs commissural axons during development by repelling neurite outgrowth from the spinal cord. During development, C1orf187 modulates neural crest migration by reducing the polarization of these cells, leading to reduced velocity of migration and increased frequency of changing direction, leading to a net decrease in migrational distance. It acts as an antagonist of the Wnt signaling pathway by inhibiting the stabilization of cytosolic _-catenin via its interaction with LRP6. C1orf187 inhibits outgrowth from the olfactory bulb and likely contributes to the formation of the lateral olfactory tract.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-7520R-A488)

Dodavatel: Bioss

Popis: Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-7520R-FITC)

Dodavatel: Bioss

Popis: Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-7520R-A680)

Dodavatel: Bioss

Popis: Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites <i>in vitro</i>. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-13333R-A680)

Dodavatel: Bioss

Popis: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the Spinal cord. SMA is caused by deletion or loss-of-function mutations in the SMN (Survival of Motor Neuron) gene. Gemin6, the protein product of human chromosome 2p22.2, associates directly with SMN and is a part of the SMN complex containing Gemin2, Gemin3, Gemin4 and Gemin5 as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (Gemini of the coiled bodies).

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-13333R-FITC)

Dodavatel: Bioss

Popis: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the Spinal cord. SMA is caused by deletion or loss-of-function mutations in the SMN (Survival of Motor Neuron) gene. Gemin6, the protein product of human chromosome 2p22.2, associates directly with SMN and is a part of the SMN complex containing Gemin2, Gemin3, Gemin4 and Gemin5 as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (Gemini of the coiled bodies).

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-13333R-CY7)

Dodavatel: Bioss

Popis: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the Spinal cord. SMA is caused by deletion or loss-of-function mutations in the SMN (Survival of Motor Neuron) gene. Gemin6, the protein product of human chromosome 2p22.2, associates directly with SMN and is a part of the SMN complex containing Gemin2, Gemin3, Gemin4 and Gemin5 as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (Gemini of the coiled bodies).

Měrná jednotka: 1 * 100 µl

Akce