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Protein Kinases and Phosphatases02:54

Protein Kinases and Phosphatases

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Proteins undergo chemical modifications that trigger changes in the charge, structure, and conformation of the proteins. Phosphorylation, acetylation, glycosylation, nitrosylation, ubiquitination, lipidation, methylation, and proteolysis are various protein modifications that regulate protein activity. Such modifications are usually enzyme-driven.
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
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Protein Kinases and Phosphatases02:54

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Phosphorylation01:02

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The addition or removal of phosphate groups from proteins is the most common chemical modification that regulates cellular processes. These modifications can affect the structure, activity, stability, and localization of proteins within cells as well as their interactions with other proteins.
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Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.

Iris Verbinnen1,2, Pieter Vaneynde1,2, Sara Reynhout1,2

  • 1Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven) - Gasthuisberg O&N1, Herestraat 49, PO-box 901, B-3000 Leuven, Belgium.

Biochemical Society Transactions
|July 9, 2021
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Summary

Mutations in Protein Phosphatase type 2A (PP2A) genes like PPP2CA are linked to neurodevelopmental disorders. Understanding these genetic changes impacts PP2A function in brain development and neurobiology.

Keywords:
PP2APP2A syndromesneurodevelopmental disordersprotein phosphatases

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Area of Science:

  • Neurobiology
  • Molecular Biology
  • Genetics

Background:

  • Protein Phosphatase type 2A (PP2A) enzymes regulate cellular signaling through dephosphorylation.
  • PP2A is crucial for normal brain function and development.
  • Dysregulation of PP2A is implicated in various neurological conditions.

Purpose of the Study:

  • To review current knowledge on PP2A gene mutations associated with neurodevelopmental disorders and intellectual disability.
  • To focus on specific genes: PPP2CA, PPP2R1A, and PPP2R5D.
  • To elucidate the impact of these mutations on PP2A structure, function, and neurobiology.

Main Methods:

  • Literature review of existing research on PP2A gene mutations.
  • Analysis of studies linking PP2A gene variants to neurodevelopmental disorders.
  • Examination of the functional consequences of identified mutations on PP2A.

Main Results:

  • PP2A gene mutations, particularly in PPP2CA, PPP2R1A, and PPP2R5D, are causally linked to neurodevelopmental disorders and intellectual disability.
  • These mutations alter PP2A enzyme structure and substrate specificity.
  • The identified genetic alterations impact PP2A's role in neurobiology and brain development.

Conclusions:

  • PP2A gene mutations represent a significant genetic factor in neurodevelopmental disorders.
  • Understanding the molecular mechanisms underlying these mutations is vital for potential therapeutic strategies.
  • Further research is needed to fully comprehend PP2A's complex role in brain development and disease.