AMPH
- Known as:
- AMPH
- Catalog number:
- 001540A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- AMPH
Related genes to: AMPH
- Gene:
- AMPH NIH gene
- Name:
- amphiphysin
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 7p14.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-12-12
- Date modifiied:
- 2016-10-05
- Gene:
- BIN1 NIH gene
- Name:
- bridging integrator 1
- Previous symbol:
- AMPHL
- Synonyms:
- SH3P9, AMPH2
- Chromosome:
- 2q14.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-05-19
- Date modifiied:
- 2019-04-23
Related products to: AMPH
Related articles to: AMPH
- Most Alzheimer disease (AD) susceptibility genes have poorly understood roles in the central nervous system (CNS). To address this gap, we systematically characterized 100 conserved candidate AD risk genes using a cross-species strategy in the fruit fly, Drosophila melanogaster. Genes were prioritized based primarily on human functional genomic evidence. We generated custom loss-of-function alleles for each of the conserved fly orthologs. Most of the genes are expressed in the adult brain, including 24 neuron- and 13 glia-specific expression patterns. Overall, we identify 50 candidate AD risk gene homologs with requirements for CNS structure or function, including 18 whose loss of function causes neurodegeneration (e.g., Snx6/SNX32 and ClC-a/CLCN1), 35 required for neurophysiology (e.g., Arr1/ARRB2 and stai/STMN4), and eight with diminished CNS resilience following a thermal or mechanical stress (e.g., cindr/CD2AP and Amph/BIN1). In a parallel screen, we found 28 AD risk gene homologs (e.g., Ets98B/SPI1 and Yod1/YOD1) that modify the neurotoxicity of either amyloid-β peptide or tau protein, which aggregate to form AD pathology. To translate our findings back to human AD, we used oligogenic risk scores based on gene clusters with shared nervous system phenotypes in flies, pinpointing functional pathways that differentially drive AD risk. Our results-available online via the Alzheimer's Locus Integrative Cross-species Explorer portal-reveal nervous system requirements for dozens of AD risk genes and may enable dissection of causal heterogeneity in AD. - Source: PubMed
Publication date: 2025/10/29
Deger Jennifer MHannan Shabab BGu MingxueStrohlein Colleen EGoodman Lindsey DPasupuleti SasidharShaik ZahidMa LiwenLi YarongLi JiayangStephens Morgan CTyrlík MichalLiu ZhandongAl-Ramahi IsmaelBotas JuanShaw Chad AKanca OguzBellen Hugo JShulman Joshua M - Most Alzheimer's disease (AD) susceptibility genes have poorly understood roles in the central nervous system (CNS). To address this gap, we systematically characterized 100 conserved candidate AD risk genes using a cross-species strategy in the fruit fly, . Genes were prioritized based primarily on human functional genomic evidence. We generated custom, loss-of-function alleles for each of the conserved fly orthologs. Most of the genes (80%) are expressed in the adult brain, including 24 neuron- and 13 glia-specific expression patterns. Overall, we identify 50 candidate AD risk gene homologs with requirements for CNS structure or function, including 18 whose loss of function causes neurodegeneration (e.g., and ), 35 required for neurophysiology (e.g., /), and 8 with diminished CNS resilience following a thermal or mechanical stress (e.g., , ). In a parallel screen, we found 28 AD risk gene homologs (e.g, , ) that modify the neurotoxicity of either amyloid-β peptide or tau protein, which aggregate to form AD pathology. To translate our findings back to human AD, we developed and deployed oligogenic risk scores based on gene clusters with shared nervous system phenotypes in flies, pinpointing functional pathways that differentially drive AD risk. Our results-available online via the Alzheimer's Locus Integrative Cross-species Explorer (alice.nrihub.org)-reveal novel nervous system requirements for dozens of AD risk genes and may enable dissection of causal heterogeneity in AD. - Source: PubMed
Publication date: 2025/07/30
Deger Jennifer MHannan Shabab BGu MingxueStrohlein Colleen EGoodman Lindsey DPasupuleti SasidharShaik ZahidMa LiwenLi YarongLi JiayangStephens Morgan CTyrlík MichalLiu ZhandongAl-Ramahi IsmaelBotas JuanShaw Chad AKanca OguzBellen Hugo JShulman Joshua M - Genome-wide association studies (GWASs) have uncovered over 75 genomic loci associated with risk for late-onset Alzheimer's disease (LOAD), but identification of the underlying causal genes remains challenging. Studies of induced pluripotent stem cell (iPSC)-derived neurons from LOAD patients have demonstrated the existence of neuronal cell-intrinsic functional defects. Here, we searched for genetic contributions to neuronal dysfunction in LOAD using an integrative systems approach that incorporated multi-evidence-based gene mapping and network-analysis-based prioritization. A systematic perturbation screening of candidate risk genes in Caenorhabditis elegans (C. elegans) revealed that neuronal knockdown of the LOAD risk gene orthologs vha-10 (ATP6V1G2), cmd-1 (CALM3), amph-1 (BIN1), ephx-1 (NGEF), and pho-5 (ACP2) alters short-/intermediate-term memory function, the cognitive domain affected earliest during LOAD progression. These results highlight the impact of LOAD risk genes on evolutionarily conserved memory function, as mediated through neuronal endosomal dysfunction, and identify new targets for further mechanistic interrogation. - Source: PubMed
Publication date: 2024/04/30
Hudgins Adam DZhou ShiyiArey Rachel NRosenfeld Michael GMurphy Coleen TSuh Yousin - A transverse-tubule (T-tubule) is an invagination of the plasma membrane penetrating deep into muscle cells. An extensive membrane network of T-tubules is crucial for rapid and synchronized signal transmission from the cell surface to the entire sarcoplasmic reticulum for Ca2+ release, leading to muscle contraction. T-tubules are also indispensable for the formation and positioning of other muscle organelles. Their structure and physiological roles are relatively well established; however, the mechanisms shaping T-tubules require further elucidation. Centronuclear myopathy (CNM), an inherited muscular disorder, accompanies structural defects in T-tubules. Membrane traffic-related genes, including MTM1 (Myotubularin 1), DNM2 (Dynamin 2), and BIN1 (Bridging Integrator-1), were identified as causative genes of CNM. In addition, causative genes for other muscle diseases are also reported to be involved in the formation and maintenance of T-tubules. This review summarizes current knowledge on the mechanisms of how T-tubule formation and maintenance is regulated. - Source: PubMed
Kawaguchi KoheiFujita Naonobu - Insulin resistance is the decreased effectiveness of insulin receptor function during signaling of glucose uptake. Insulin receptors are regulated by endocytosis, a process that removes receptors from the cell surface to be marked for degradation or for re-use. - Source: PubMed
Publication date: 2023/09/27
Tim BryceKouznetsova Valentina LKesari SantoshTsigelny Igor F