Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism [PDF]
, 2013 Arginase deficiency is a rare autosomal recessive disorder resulting from a loss of the liver arginase isoform, arginase 1 (ARG1), which is the final step in the urea cycle for detoxifying ammonia. ARG1 deficiency leads to hyperargininemia, characterized
Ballantyne, Laurel L. +6 more
core +18 more sources
Sleep in Kcna2 knockout mice [PDF]
BMC Biology, 2007 Abstract Background Shaker codes for a Drosophila voltage-dependent potassium channel. Flies carrying Shaker null or hypomorphic mutations sleep 3–4 h/day instead of 8–14 h/day as their wild-type siblings do. Shaker-like channels are conserved across species but it is unknown whether they affect sleep
Douglas, CL +6 more
openaire +6 more sources
Cdk2 Knockout Mice Are Viable [PDF]
Current Biology, 2003 Cyclin-dependent kinases (Cdks) and their cyclin regulatory subunits control cell growth and division. Cdk2/cyclin E complexes are thought to be required because they phosphorylate the retinoblastoma protein and drive cells through the G1/S transition into the S phase of the cell cycle.
Eiman Aleem +4 more
openaire +3 more sources
Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. [PDF]
, 2014 Mutations in SLURP1 cause mal de Meleda, a rare palmoplantar keratoderma (PPK). SLURP1 is a secreted protein that is expressed highly in keratinocytes but has also been identified elsewhere (e.g., spinal cord neurons).
Adeyo, Oludotun +11 more
core +9 more sources
Knockout Corner: Knockout mice for monoamine oxidase A [PDF]
The International Journal of Neuropsychopharmacology, 1999 A line of transgenic mice was isolated in which transgene integration had caused a deletion in the gene encoding monoamine oxidase A, an enzyme that degrades serotonin and norepinephrine. This has provided an animal model of MAOA deficiency in humans, a condition characterized by borderline mental retardation and impulsive aggression.
Isabelle Seif, Edward De Maeyer
openaire +3 more sources
Rab8a and Rab8b are essential for several apical transport pathways but insufficient for ciliogenesis [PDF]
, 2013 The small GTP-binding protein Rab8 is known to play an essential role in intracellular transport and cilia formation. We have previously demonstrated that Rab8a is required for localising apical markers in various organisms.
A. Harada +10 more
core +2 more sources
Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]
, 2019 Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore +8 more
core +1 more source
Contrasting roles of axonal (pyramidal cell) and dendritic (interneuron) electrical coupling in the generation of neuronal network oscillations [PDF]
, 2003 Electrical coupling between pyramidal cell axons, and between interneuron dendrites, have both been described in the hippocampus. What are the functional roles of the two types of coupling?
Bibbig, A. +7 more
core +2 more sources
Ppp2ca knockout in mice spermatogenesis [PDF]
REPRODUCTION, 2015 Protein phosphatase 2A (PP2A) is a ubiquitous serine/threonine phosphatase involved in meiosis, mitosis, sperm capacitation, and apoptosis. Abberant activity of PP2A has been associated with a number of diseases. The homolog PPP2CA and PPP2CB can each function as the phosphatase catalytic subunit generally referred to as PP2AC.
Jianmin Li +4 more
openaire +2 more sources
Non-catalytic Roles of Tet2 Are Essential to Regulate Hematopoietic Stem and Progenitor Cell Homeostasis [PDF]
, 2019 The Ten-eleven translocation (TET) enzymes regulate gene expression by promoting DNA demethylation and partnering with chromatin modifiers. TET2, a member of this family, is frequently mutated in hematological disorders.
Abdel-Wahab +45 more
core +1 more source