RT Book, Section
A1 Underwood, Benjamin R.
A1 Massey, Dunecan C. O.
A1 Rubinsztein, David C.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181467317
T1 Autophagy and Human Genetic Disease
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181467317
RD 2024/10/13
AB Autophagy  is  an  intracellular  bulk  degradation  system.The  genetics,  signalling  and  regulation  of  autophagy  have  been  a  major  focus  of  research  for  the  last  decade  and  consequently  these  are  increasingly  well  understood.Defects  in  autophagy  are  now  known  to  underpin  a  number  of  Mendelian  human  genetic  diseases  including  multiple  sulfatase  deficiency,  mucopolysaccharidosis  type  IIIA,  X-linked  myopathy  with  excessive  autophagy,  Danon  disease,  Pompe  disease,  and  some  forms  of  familial  frontotemporal  lobar  degeneration.  Autophagy  may  also  be  involved  in  familial  forms  of  Parkinson’s  disease.  Furthermore,  genome  wide  association  studies  are  identifying  autophagy  as  an  important  process  underlying  risk  alleles  for  more  complex  polygenic  diseases,  such  as  Crohn’s  disease.Autophagy  can  be  induced  or  inhibited  by  a  number  of  physiological  and  pharmacological  stimuli.Manipulation  of  autophagy  with  drugs  is  a  promising  therapeutic  strategy  for  a  number  of  human  genetic  diseases  characterised  by  aggregation  of  abnormal  proteins.  These  diseases  include  polyglutamine  diseases,  such  as  Huntington’s  disease  and  some  familial  forms  of  frontotemporal  lobar  degeneration  and  Parkinson’s  disease.  This  is  important,  as  there  are  currently  no  treatments  which  modify  the  rate  of  neurodegeneration  in  these  conditions.