|
Variegate Porphyria
|
0.010 |
Biomarker
|
disease |
BEFREE |
To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four genes, <i>ALAS1, HMBS</i>, <i>CPOX</i> and <i>PPOX</i> for mutational analysis of acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP).
|
31154864 |
2019 |
|
Sideroblastic anemia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In patients, ALAS enzyme activity is affected in most of the mutations causing non-syndromic SA and in several porphyrias.
|
30737140 |
2019 |
|
Sideroblastic anemia
|
0.020 |
GeneticVariation
|
disease |
LHGDN |
Multiple mechanisms for hereditary sideroblastic anemia.
|
11929048 |
2002 |
|
Sepsis
|
0.200 |
Biomarker
|
disease |
RGD |
Protective role of heme oxygenase-1 in the intestinal tissue injury in an experimental model of sepsis.
|
12627002 |
2003 |
|
Schizophrenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
In contrast, protein and mRNA levels of heme synthesis rate limiting enzyme aminolevulinic acid synthase-1 (ALAS1) were unchanged in SZ derived LCLs.
|
30948194 |
2019 |
|
Rhabdomyolysis
|
0.200 |
Biomarker
|
phenotype |
RGD |
Free heme pool and activity of key enzyme of heme synthesis in the rat liver under action of agents affecting reduced glutathione level.
|
16846079 |
2006 |
|
Pulmonary Hypertension
|
0.200 |
Biomarker
|
phenotype |
RGD |
In this study, we examined expression of HO-1 as well as non-specific delta-aminolevulinate synthase (ALAS1), the rate-limiting enzyme in heme catabolism and biosynthesis, respectively, in a rat model of PH produced by subcutaneous injection of MCT (60 mg/kg).
|
16181105 |
2005 |
|
Prostate carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The use of HPRT1 alone as a reference gene shown in our study was sufficient, but the normalization factors generated from two (HRPT1, ALAS1) or all three genes (HRPT1, ALAS1, K-ALPHA-1) should be considered for an improved reliability of normalization in gene profiling studies of prostate cancer.
|
16211407 |
2005 |
|
Porphyria, Erythropoietic
|
0.010 |
Biomarker
|
disease |
BEFREE |
The treatment of hepatic porphyrias by an RNAi-targeting hepatic ALAS1 is actually tested and may lead to improve the management of acute attacks.In erythropoietic porphyrias, the key role of ALAS2 as a gate keeper of the heme and subsequently hemoglobin synthesis has been demonstrated.
|
28118224 |
2017 |
|
Neuropsychiatric syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Acute porphyrias are characterized by a neuropsychiatric syndrome with intermittent induction of hepatic ALAS1 (δ-aminolaevulinate synthase 1), the first and rate-limiting enzyme of the haem pathway.
|
22070747 |
2012 |
|
Neurologic Symptoms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Acute porphyric attacks, precipitated by fasting, certain hormones and some drugs, involve induction of 5-ALAS secondarily to depletion of the above pool, and the resultant elevation of 5-ALA levels initiates the abdominal and neurological symptoms of attacks.
|
31443750 |
2019 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
We recommend using KALPHA-TBP for the study of T1T2 tumors, RPL27-SHAD for T3T4 tumors, KALPHA-SHAD for N0 tumors, and ALAS-TBP for N+ tumors.
|
19650912 |
2009 |
|
MELORHEOSTOSIS, ISOLATED
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Mouse erythroleukemia (MEL) cells transformed by Friend virus and induced to undergo erythroid differentiation by treatment with hexamethylenebisacetamide (HMBA) increase erythroid specific 5-aminolevulinate synthase (ALAS-E) mRNA levels by 4-15-fold and decrease "housekeeping" 5-aminolevulinate synthase (ALAS-N) mRNA levels by 1.2-1.4-fold.
|
8843957 |
1996 |
|
Malignant neoplasm of prostate
|
0.010 |
Biomarker
|
disease |
BEFREE |
The use of HPRT1 alone as a reference gene shown in our study was sufficient, but the normalization factors generated from two (HRPT1, ALAS1) or all three genes (HRPT1, ALAS1, K-ALPHA-1) should be considered for an improved reliability of normalization in gene profiling studies of prostate cancer.
|
16211407 |
2005 |
|
Liver Failure, Acute
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In the present study, we examined expression of HO-1 as well as the non-specific delta-aminolevulinate synthase (ALAS-N, or ALAS1), the rate-limiting enzyme in heme catabolism and biosynthesis, respectively, in the livers of patients with ALF.
|
15547665 |
2004 |
|
Liver Failure, Acute
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
These findings suggest that, in the liver of ALF patients, there may be an increase in free heme concentration which up-regulates HO-1 gene expression, while down-regulating ALAS1 gene expression, resulting in markedly altered heme metabolism and liver function.
|
15547665 |
2004 |
|
Impaired glucose tolerance
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Mice heterozygous null for ALAS1 (A1+/-s) experience impaired glucose tolerance (IGT) and insulin resistance (IR) beyond 20-weeks of age (aged A1+/-s).
|
29364890 |
2018 |
|
Hereditary Coproporphyria
|
0.010 |
Biomarker
|
disease |
BEFREE |
To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four genes, <i>ALAS1, HMBS</i>, <i>CPOX</i> and <i>PPOX</i> for mutational analysis of acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP).
|
31154864 |
2019 |
|
Hepatitis C
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Western blot analysis showed a higher expression level of FLVCR1, but not ABCG2, as well as a higher expression level of mature ALAS1, which is the rate-limiting enzyme in the heme synthesis pathway, in HCV core protein-expressing cells compared with controls.
|
29856826 |
2018 |
|
Erythropoietic Protoporphyria
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Moreover, ALAS2 gain of function mutations is responsible for X-linked protoporphyria and increased ALAS1 activity lead to acute attacks of hepatic porphyrias.
|
30737140 |
2019 |
|
Erythropoietic Protoporphyria
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In about 2% of patients, overt disease was recently shown to be caused by gain-of-function mutations in the erythroid-specific aminolevulinic acid synthase 2 (ALAS2/ALAS, EC 2.3.1.27) gene and named X-linked dominant protoporphyria.
|
19744342 |
2009 |
|
Disorders of Porphyrin Metabolism
|
0.520 |
Biomarker
|
group |
BEFREE |
These results, taken together, permit us to further an INH inhibition kinetic mechanism for ALAS, which suggests the possible use of INH-derived drugs in treating patients with XLPP and potentially other protoporphyrin-accumulating porphyrias.
|
27838491 |
2017 |
|
Disorders of Porphyrin Metabolism
|
0.520 |
Biomarker
|
group |
RGD |
Testing the porphyrinogenicity of propofol in a primed rat model.
|
7547054 |
1995 |
|
Disorders of Porphyrin Metabolism
|
0.520 |
GeneticVariation
|
group |
BEFREE |
In patients, ALAS enzyme activity is affected in most of the mutations causing non-syndromic SA and in several porphyrias.
|
30737140 |
2019 |
|
Disorders of Porphyrin Metabolism
|
0.520 |
Biomarker
|
group |
CTD_human |
Effects of new anticonvulsant medications on porphyrin synthesis in cultured liver cells: potential implications for patients with acute porphyria.
|
9222176 |
1997 |