rabbit polyclonal anti npc1  (Novus Biologicals)

Journal: Journal of Clinical Medicine

Article Title: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

doi: 10.3390/jcm9030679

Figure Lengend Snippet: Genotype and clinical and biochemical phenotype of Niemann-Pick C patients analyzed in this study.

Article Snippet: After overnight blocking with 5% nonfat dry milk in PBS-Tween 0.1% (PBS-T), the membranes were probed with anti NPC1 polyclonal antibody (Novus Biologicals, Littleton, USA; NB400-148) overnight at 4 °C.

Techniques: Variant Assay

Journal: Journal of Clinical Medicine

Article Title: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

doi: 10.3390/jcm9030679

Figure Lengend Snippet: Relative distribution of the clinical phenotypes of Niemann–Pick type C1 (NPC1) patients based on the age at onset of first neurological signs. Severe infantile (SI): age at onset <2 years; Late infantile (LI): age at onset 2–6 years; Juvenile (J): age at onset 6–15 years; and Adult (A): age at onset ≥15 years. Patients who died during the first month of life due to liver or respiratory insufficiency without signs of neurological involvement were classified as early infantile systemic lethal form (EISL). NC: not classifiable.

Article Snippet: After overnight blocking with 5% nonfat dry milk in PBS-Tween 0.1% (PBS-T), the membranes were probed with anti NPC1 polyclonal antibody (Novus Biologicals, Littleton, USA; NB400-148) overnight at 4 °C.

Techniques:

Journal: Journal of Clinical Medicine

Article Title: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

doi: 10.3390/jcm9030679

Figure Lengend Snippet: Spectrum of NPC1 type of mutation mutations.

Article Snippet: After overnight blocking with 5% nonfat dry milk in PBS-Tween 0.1% (PBS-T), the membranes were probed with anti NPC1 polyclonal antibody (Novus Biologicals, Littleton, USA; NB400-148) overnight at 4 °C.

Techniques: Mutagenesis

Journal: Journal of Clinical Medicine

Article Title: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

doi: 10.3390/jcm9030679

Figure Lengend Snippet: Frequency of NPC1 mutant alleles identified in more than one allele.

Article Snippet: After overnight blocking with 5% nonfat dry milk in PBS-Tween 0.1% (PBS-T), the membranes were probed with anti NPC1 polyclonal antibody (Novus Biologicals, Littleton, USA; NB400-148) overnight at 4 °C.

Techniques: Mutagenesis, Variant Assay

Journal: Journal of Clinical Medicine

Article Title: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

doi: 10.3390/jcm9030679

Figure Lengend Snippet: Clinical, biochemical, and molecular characteristics of the identified NPC1 novel mutations.

Article Snippet: After overnight blocking with 5% nonfat dry milk in PBS-Tween 0.1% (PBS-T), the membranes were probed with anti NPC1 polyclonal antibody (Novus Biologicals, Littleton, USA; NB400-148) overnight at 4 °C.

Techniques: Staining, Variant Assay

Journal: Journal of Clinical Medicine

Article Title: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

doi: 10.3390/jcm9030679

Figure Lengend Snippet: NPC1 protein abundance in patients carrying seven novel missense mutations. ( A ) Representative western blot analysis of NPC1 protein expression in NPC patients and normal control fibroblast cell lines. ( B ) The intensity of the NPC1 signals was normalized against actin. The NPC1 protein content in NPC fibroblasts was expressed as a percentage of the NPC1 protein content found in fibroblasts from a normal control.

Article Snippet: After overnight blocking with 5% nonfat dry milk in PBS-Tween 0.1% (PBS-T), the membranes were probed with anti NPC1 polyclonal antibody (Novus Biologicals, Littleton, USA; NB400-148) overnight at 4 °C.

Techniques: Quantitative Proteomics, Western Blot, Expressing, Control

Journal: Journal of Clinical Medicine

Article Title: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

doi: 10.3390/jcm9030679

Figure Lengend Snippet: Functional analysis of four NPC1 splicing mutations. ( A ) The c.181-2A>G mutation caused the creation of a novel acceptor splice site leading to the insertion of a nucleotide in the mRNA transcript and the alteration of the reading frame; ( B ) the c.3591+121C>T and ( C ) the c.3591+105A>T mutations led to the generation of a cryptic acceptor splice site within intron 23, causing the retention of 119 and 103 nt, respectively, the shifting in the open reading frame, and the generation of a premature stop codon. The abnormal transcript resulting from the presence of c.3591+121C>T mutation was degraded via non-sense mediated decay (NMD). ( D ) In patient NP67, the skipping of exon 14 was observed (r.2131_2245del). The abnormal transcript was degraded via NMD.

Article Snippet: After overnight blocking with 5% nonfat dry milk in PBS-Tween 0.1% (PBS-T), the membranes were probed with anti NPC1 polyclonal antibody (Novus Biologicals, Littleton, USA; NB400-148) overnight at 4 °C.

Techniques: Functional Assay, Mutagenesis

Journal: Journal of Clinical Medicine

Article Title: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

doi: 10.3390/jcm9030679

Figure Lengend Snippet: NPC1 protein structure and variants. The structure of NPC1 (PDB 5U73) showed the location of the NPC1 variants identified in this study. Functional domains containing NPC1 variants are indicated in different colors. MLD, middle luminal domain = green; CTD, C-terminal domain = yellow; TM5 = blue; Cytosolic loop = red; lumenal loop between TM5 and TM6 = pink.

Article Snippet: After overnight blocking with 5% nonfat dry milk in PBS-Tween 0.1% (PBS-T), the membranes were probed with anti NPC1 polyclonal antibody (Novus Biologicals, Littleton, USA; NB400-148) overnight at 4 °C.

Techniques: Functional Assay