A. Molecular pathology

• CSTs
  24 July

  cystatins WKP
  Definition: The cystatins are a family of cysteine protease inhibitors which share a sequence homology and a common tertiary structure of an alpha helix lying on top of an anti-parallel beta sheet. The family is subdivided as described below.
  Cystatins show similarity to fetuins, kininogens, histidine-rich glycoproteins and cystatin-related proteins.
  Cystatins mainly inhibit peptidase enzymes (another term for proteases) belonging to peptidase families C1 (papain (...)

• FRS2
  13 July

  WKP
  Definition: Fibroblast growth factor receptor substrate 2 is a protein that in humans is encoded by the FRS2 gene.
  Pathology
  FRS2 is overexpressed and amplified in several cancer types, including prostate cancer.
  Low-grade osteosarcoma (LGOS) encompasses low-grade central osteosarcoma (LGCOS) and parosteal osteosarcoma (POS).
  LGOSs are characterized by a supernumerary ring and giant rod chromosomes containing the 12q13-15 amplicon.
  The fibroblast growth factor receptor substrate (...)

• KL
  14 May

  Klotho WKP
  Definition: Klotho is an enzyme that in humans is encoded by the KL gene.
  The KL gene encodes a type-I membrane protein that is related to β-glucuronidases.
  Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF.
  Also, mutations within the KL protein have been associated with ageing, bone (...)

• MME
  8 May

  CD10 WKP
  See also : CD10

• oncohistones
  8 May

  Definition: Recurrent mutations in histone genes can cause pediatric cancers. These mutations occur at high frequency and lead to the expression of mutant histones that exhibit oncogenic features. Thus, they are termed oncohistones.
  Mutations have been found in the genes encoding histone H3 and its variants.
  The expression of the oncohistones affects the global chromatin landscape.
  Paywall references
  Oncohistones: drivers of pediatric cancers. Mohammad F, Helin K. Genes Dev. 2017 Dec (...)

• advanced glycation end-products
  7 May

  AGEs; advanced glycation end-product
  Definition: Advanced glycation end products (AGEs) are proteins or lipids that become glycated as a result of exposure to sugars, or glycation.
  Pathology
  Advanced glycation end products (AGEs) can be a factor in aging and in the development or worsening of many degenerative diseases, such as diabetes, atherosclerosis, chronic kidney disease, and Alzheimer’s disease.
  See also (...)

• ACTA2
  19 March

  WKP
  Definition: Alpha-actin-2 also known as actin, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA) is a protein that in humans is encoded by the ACTA2 gene located on 10q22-q24.
  Actin alpha 2, the human aortic smooth muscle actin gene, is one of six different actin isoforms (ACTAs ) which have been identified.
  Actins (ACTs ) are highly conserved proteins that are involved in cell motility, structure and integrity.
  Alpha actins (ACTAs ) are a (...)

• biological organization
  24 February

  biological organisation
  |WKP|
  Definition : Biological organization is the hierarchy of complex biological structures and biologial systems.
  This traditional hierarchy extends from atoms to biospheres. The higher levels of this scheme are often referred to as an ecological organisation concept, or as the field, hierarchical ecology.
  Each level in the hierarchy represents an increase in organisational complexity , with each "object" being primarily composed of the previous level’s basic (...)

• REP1
  27 January

  WKP
  Definition: Rab escort protein 1 (REP1) also known as rab proteins geranylgeranyltransferase component A 1 is an enzyme that in humans is encoded by the CHM gene.
  This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction.
  Rab GTPases need to be geranylgeranyled on either one or two cysteine (...)

• farnesylation
  27 January

  Definition: Farnesylation is a type of prenylation , a post-translational modification of proteins by which an isoprenyl group is added to a cysteine residue.
  It is an important process to mediate protein–protein interactions and protein–membrane interactions.
  Protein farnesylation involves the transfer of a farnesyl moiety to C-terminal cysteine(s) of the target protein. There are enzymes that carry out this type of prenylation as farnesyl transferase.
  Farnesyltransferase and (...)

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