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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1969 1
1970 1
1973 3
1974 1
1975 2
1976 1
1980 1
1982 3
1983 2
1984 3
1985 1
1986 1
1987 1
1988 1
1990 1
1992 4
1993 1
1994 1
1995 1
1996 3
1997 4
1998 1
1999 2
2000 3
2001 3
2002 12
2003 4
2005 2
2006 6
2007 2
2008 4
2009 1
2010 4
2011 1
2012 4
2013 9
2014 4
2015 4
2016 4
2017 3
2019 3
2020 6
2021 5
2022 3
2023 2
2024 1

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124 results

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Page 1
The ménage à trois of autophagy, lipid droplets and liver disease.
Filali-Mouncef Y, Hunter C, Roccio F, Zagkou S, Dupont N, Primard C, Proikas-Cezanne T, Reggiori F. Filali-Mouncef Y, et al. Autophagy. 2022 Jan;18(1):50-72. doi: 10.1080/15548627.2021.1895658. Epub 2021 Apr 2. Autophagy. 2022. PMID: 33794741 Free PMC article. Review.
Autophagic pathways cross with lipid homeostasis and thus provide energy and essential building blocks that are indispensable for liver functions. Energy deficiencies are compensated by breaking down lipid droplets (LDs), intracellular organelles that store neutral lipids, …
Autophagic pathways cross with lipid homeostasis and thus provide energy and essential building blocks that are indispensable for liver func …
Anti-Islet Autoantibodies in Type 1 Diabetes.
Kawasaki E. Kawasaki E. Int J Mol Sci. 2023 Jun 11;24(12):10012. doi: 10.3390/ijms241210012. Int J Mol Sci. 2023. PMID: 37373160 Free PMC article. Review.
Anti-islet autoantibodies serve as key markers in immune-mediated type 1 diabetes (T1D) and slowly progressive T1D (SPIDDM), also known as latent autoimmune diabetes in adults (LADA). Autoantibodies to insulin (IAA), glutamic acid decarboxylase (GADA), tyrosine phosphat …
Anti-islet autoantibodies serve as key markers in immune-mediated type 1 diabetes (T1D) and slowly progressive T1D (SPIDDM), also known as l …
Lysosomal Acid Phosphatase Biosynthesis and Dysfunction: A Mini Review Focused on Lysosomal Enzyme Dysfunction in Brain.
Ashtari N, Jiao X, Rahimi-Balaei M, Amiri S, Mehr SE, Yeganeh B, Marzban H. Ashtari N, et al. Curr Mol Med. 2016;16(5):439-46. doi: 10.2174/1566524016666160429115834. Curr Mol Med. 2016. PMID: 27132795 Review.
Lysosomal dysfunction occurs in enzymatic and non-enzymatic deficiencies, which result in abnormal accumulation of materials. Although lysosomal storage disorders affect different organs, the central nervous system is the most vulnerable. Evidence shows the role of lysosom …
Lysosomal dysfunction occurs in enzymatic and non-enzymatic deficiencies, which result in abnormal accumulation of materials. Althoug …
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Banka S, Newman WG. Banka S, et al. Orphanet J Rare Dis. 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84. Orphanet J Rare Dis. 2013. PMID: 23758768 Free PMC article. Review.
The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase beta or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also called severe congenital neutropenia type 4, …
The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase beta or G-6-Pase 3 or G6PC3). Bi-allelic G6P …
Serine biosynthesis and transport defects.
El-Hattab AW. El-Hattab AW. Mol Genet Metab. 2016 Jul;118(3):153-159. doi: 10.1016/j.ymgme.2016.04.010. Epub 2016 Apr 22. Mol Genet Metab. 2016. PMID: 27161889 Review.
l-serine is a non-essential amino acid that is biosynthesized via the enzymes phosphoglycerate dehydrogenase (PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP). ...Serine biosynthesis defects result from impairments of PGDH, PSAT, or …
l-serine is a non-essential amino acid that is biosynthesized via the enzymes phosphoglycerate dehydrogenase (PGDH), phosphoserine am …
Acid phosphatases.
Bull H, Murray PG, Thomas D, Fraser AM, Nelson PN. Bull H, et al. Mol Pathol. 2002 Apr;55(2):65-72. doi: 10.1136/mp.55.2.65. Mol Pathol. 2002. PMID: 11950951 Free PMC article. Review.
Acid phosphatases (APs) are a family of enzymes that are widespread in nature, and can be found in many animal and plant species. ...Yet, paradoxically, human APs have had considerable impact as tools of clinical investigation and intervention. One particular example is ta …
Acid phosphatases (APs) are a family of enzymes that are widespread in nature, and can be found in many animal and plant species. ... …
Sodium taurocholate co-transporting polypeptide deficiency.
Schneider AL, Köhler H, Röthlisberger B, Grobholz R, McLin VA. Schneider AL, et al. Clin Res Hepatol Gastroenterol. 2022 Mar;46(3):101824. doi: 10.1016/j.clinre.2021.101824. Epub 2021 Oct 29. Clin Res Hepatol Gastroenterol. 2022. PMID: 34757153 Free article. Review.
INTRODUCTION: Little is known about bile acid transporter defects on the basolateral side of hepatocytes. ...Longer follow-up is needed to evaluate the long-term consequences of this newly identified inherited disease of bile acid transport....
INTRODUCTION: Little is known about bile acid transporter defects on the basolateral side of hepatocytes. ...Longer follow-up is need …
Acute rhabdomyolysis and inflammation.
Hamel Y, Mamoune A, Mauvais FX, Habarou F, Lallement L, Romero NB, Ottolenghi C, de Lonlay P. Hamel Y, et al. J Inherit Metab Dis. 2015 Jul;38(4):621-8. doi: 10.1007/s10545-015-9827-7. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778939 Review.
The inherited causes are: i) metabolic with failure of energy production, including mitochondrial fatty acid ss-oxidation defects, LPIN1 mutations, inborn errors of glycogenolysis and glycolysis, more rarely mitochondrial respiratory chain deficiency, purine defects …
The inherited causes are: i) metabolic with failure of energy production, including mitochondrial fatty acid ss-oxidation defects, LP …
124 results