PWS Research Notes Home

• PWS abstracts - 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990 | 1980-1989 | 1979 and prior
• PWS Explorer annotated pathway maps
• PWS summary
• PWS issues
  • Anesthesia | Sepsis-like conditions and mitochondrial function in PWS | Sudden unexpected death
  • Cardiac
  • Endocrinological | Growth hormone physiology | Growth hormone safety | Growth hormone tests | Growth hormone treatment | Hypothyroidism
  • Hematological | Leukopenia | Porphyria
  • Hypothalamus
  • Immunological | Lupus
  • Metabolic | Diabetes | Elevated phenylalanine and tyrosine | Ethylmalonic aciduria in PWS | Glutamine | Hyperlipogenesis | Hypocholesterolemia
  • Neurological | Brain imaging | Encephalopathy | Plasticity | Sensory processing disorder | Seizure disorders
  • Neurobehavioral | Autism | Psychiatric
    • Neurotransmitters | Acetylcholine | Dopamine | Excitotoxins | GABA
    • Nutritional treatment of behavioral disorders
  • Ocular
  • Oral
  • Orthopedic | Scoliosis
  • Renal
  • Respiratory | Hypoxia
  • Self-harming
  • Sleep-related disorders | Cataplexy-narcolepsy | Excessive daytime sleepiness
  • Somatic | Activity level | Hypotonia | Temperature regulation
  • Speech | Hearing
  • Weight | Adiponectin | Cholecystokinin | Diets for PWS | Energy metabolism | Failure to thrive | Ghrelin | Hunger | Ketogenic diets | Leptin | Modified protein-sparing fasting | Neuropeptide Y | Obesity treatment | Oxytocin | Pancreatic peptide - PP | Peptide YY | Nutritional density of selected foods
  • PWS symptom table (incomplete, cross-referenced with various inborn errors of metabolism)
  • Lab results | Acylcarnitine profiles | Muscle biopsy
  • Processing defects
  • Genetics | EntrezGene | OMIM gene map index - 15q11-q13 | NCBI map | PWS-related genes
    • Primary: C15orf2 | CHRNA7 | CYFIP | GABRB3 | GABRG3 (GABA-A receptor, gamma 3) | IPW | MAGEL2 | MKRN3 | Necdin/NDN | NIPA1 | NIPA2 | PAR1 | PAR4 | PAR5 | PWCR1 | PWRN1 | PWRN2 | SNORD115-1 | snoRNAs | SNRPN (small nuclear ribonucleoprotein polypeptide N) | Snurf | TUBGCP5 | UBE3A | ZNF127-Zfp127
    • Secondary: 7B2 | CD36 | FMR1 | MCR2 | MeCP2 | NRF-1 | PC2 | Secretogranin II - SCG2
    • Possibles: PGC-1alpha (PPARgamma coactivator-1alpha)
    • Genetic redundancy | Methylation | Non-coding RNA | Phenocopying | RNA Interference
• Glycosylation | Congenital disorders of glycosylation | Mannose | Essentials of Glycobiology
• HMG-CoA pathway
• Protein starvation | Hypoalbuminemia
• G-proteins
• Coenzyme A - Acetyl-CoA
• Endogenous ethanol synthesis
• Lactic acidosis
• Electrolytes, acid-base and anion gap
• Biochemistry and other links
  • Michael King's medical biochemistry site | Silva - major metabolic pathway overview | Biochemistry of Metabolism | Pediatrix | iHOP (information hyperlinked over proteins) | NCBI - Basic Neurochemistry | NCBI - Molecular Biology | NCBI - The Cell | Roche biochemical pathways map | KEGG maps | Lipidmaps.org | LipidBank | Kegg lipid list | Gene Cards | iPath | KEGG enzyme list | Brenda | Chebi | Comparative Toxicogenomics Database | OMIM morbid map | MaxAnimations Biochemistry | Biocarta | PeroxisomeDB | MeSH | Specialty Labs' Use & Interpretation of Laboratory Tests | Signaling Gateway
• Energy metabolism
  • Basic metabolism
  • Neonatal metabolism | Milk and formula compositions
  • Kreb's cycle | Adenosine triphosphate | Citrate synthase | Fumarase | Succinate dehydrogenase
  • Glucose metabolism
    • Hypoglycemia
    • Insulin | Insulin resistance
  • Fatty acid metabolism
    • Carnitine | Carnitine acetyltransferase | Carboxylic acids | Omega oxidation | Peroxisomes | Lysomes
  • Protein metabolism | Urea cycle | Hyperammonemia
  • Mitochondria | Mitochondrial protein import | Respiratory chain | Uncoupling | Coenzyme Q10 | Creatine
  • Inborn errors of metabolism (IEMs), mitochondrial function and similar disorders
    • Metagene Online (Knowledge base for inborn errors of metabolism)
      • all traits | hypotonia | encephalopathy | respiratory insufficiency | poor feeding | failure to thrive | lethargy, drowsiness, malaise or sleep disorder | cognitive impairment | delayed speech | stridor | hypothermia | short stature | EPEMA syndrome (Encephalopathy, Petechiae, Ethylmalonic aciduria)
    • Odors
    • eMedicine IEM index
    • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
    • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
    • Adenylosuccinate lyase deficiency
    • Cartilage-hair hypoplasia
    • Creatine synthesis-transport disorders
    • Ethylmalonic aciduria
    • Isobutyryl-CoA dehydrogenase deficiency
    • Isovaleric acidemia
    • Long-chain acyl-CoA dehydrogenase deficiency
    • Maple sugar urine disease (MSUD, branched-chain amino aciduria)
    • Medium-chain acyl-CoA dehydrogenase deficiency
    • Methylmalonic acidemia
    • Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
    • Mitochondrial DNA depletion syndromes
    • Mitochondrial neurogastrointestinal encephalomyopathy
    • Multiple carboxylase deficiency
    • Multiple acyl-CoA dehydrogenase deficiency - Glutaric acidemia type II
    • Phenylketonuria (PKU)
    • Propionic acidemia
    • Rett syndrome
    • Reversible Cox deficiency
    • Reye syndrome
    • Short chain acyl-CoA dehydrogenase deficiency
    • Short chain hydroxy acyl-CoA dehydrogenase deficiency
    • Smith-Lemli-Opitz syndrome
    • Tetrahydrobiopterin deficiency
    • Trimethylaminuria
    • Tyrosinemia
    • Very long chain acyl-dehydrogenase deficiency
• Other issues
  • Sulfur metabolism | X-chromosome inactivation skewness in PWS-UPD
• Nutritional Supplements
  • Mitochondrial cocktails | Alpha-lipoic acid | Arginine | Biotin | Carnitine | Choline | Chondroitin sulfate | Cobalamin - B12 | Coenzyme Q10 | Creatine | EFAs | Folic acid | Glutathione | Iron | Magnesium | Melatonin | Niacin | Pantothenic acid | Pyridoxine - B6 | Riboflavin | Thiamin - B1 | Medium chain triglycerides | Uridine | Vitamin A | Vitamin C | Vitamin E | Vitamin K | Zinc
  • Supplements and cognitive function
• Other supplements and treatments
  • 5-Hydroxytryptophan (5-HTP) | DHEA | Dichloroacetate - DCA
  • Hyperbaric-hypobaric therapy
  • Piracetam | Selegiline (L-deprenyl)
  • Mindfulness meditation | Qigong | Tai Chi
• Other resources
  • John Kimball's biology site

Misc. other topics: Aspartame | Breastfeeding | Drug safety | Environmental health | Food safety | Nutrition | Protein Power excerpts | Public health | RDAs | Rosedale lecture