Disease group (molecular)

Articles

• enzymatic diseases
  12 February 2006

  genetic enzymes defects, enzyme diseases

• polyalanine repeat diseases
  23 April 2004

  polyalanine expansion diseases

• serpinopathies
  24 January 2006

  In humans, several serpin mutations are linked to diseases.
  Serpins are vulnerable to mutations that result in protein misfolding and the formation of inactive long chain polymers (serpinopathies).
  Serpin polymerisation reduces the amount of active inhibitor, as well as accumulation of serpin polymers causing cell death and organ failure.
  For example, the serpin alpha1-antitrypsin is primarily produced in the liver, and antitrypsin polymerisation causes hepatocytic necrosis and liver (...)

• OXPHOS diseases
  27 January 2005

  OXPHOS deficiency, anomalies of oxydative phosphorylation, mitochondrial respiratory-chain diseases, mitochondrial cytopathy, mitochondriopathies

• translation diseases
  4 February 2006

  Definition: Pathology of RNA translation.
  The list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity.
  Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition (...)

• connexinopathies
  20 April 2004

  Classification by connexin
  connexin-26 (GJB2) (MIM.121011)
  mutations in type I autosomal recessive neurosensory deafness (DFNB1) (MIM.220290)
  autosomal dominant deafness (DFNA3) (MIM.601544)
  autosomal dominant keratitis-ichtyosis-deafness syndrome (MIM.148210)
  palmoplantar keratoderma with deafness (MIM.148350)
  hystrix-like ichthyosis (MIM.602540)
  mutilating keratoderma with ichthyosis (Vohwinkel’s syndrome with ichtyosis)(MIM.604117)
  connexin-30 (GJB6) (MIM.604418) (...)

• TGF-beta signaling-associated diseases
  20 April 2004

  TGF-beta-associated disorders, TGF-beta-associated diseases

• desminopathies
  19 March 2004

  Group of diseases caused by anomalies of desmin.
  Types (exemples)
  desmin myopathy
  Synopsis
  granulofilamentous deposits of mutated desmin
  References
  Paulin D, Huet A, Khanamyrian L, Xue Z. Desminopathies in muscle disease. J Pathol. 2004 Nov;204(4):418-27. PMID: #15495235#
  Wang X, Osinska H, Gerdes AM, Robbins J. Desmin filaments and cardiac disease: establishing causality. J Card Fail. 2002 Dec;8(6 Suppl):S287-92. PMID: #12555134#
  Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans (...)

• sarcoglycanopathies
  19 March 2004
• G protein diseases
  8 February 2006

  See also
  G proteins
  References
  Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med. 1999 Apr 1;340(13):1012-20. PMID: #10099144#

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