Published in J Hum Genet on January 01, 2007
Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal. J Lipid Res (2009) 0.93
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase. Nat Commun (2014) 0.82
Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome. Expert Opin Orphan Drugs (2016) 0.75
Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study. Acta Psychiatr Neurol Scand Suppl (1957) 2.26
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet (1996) 1.77
Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab (2006) 1.58
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat (2005) 1.36
Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. Biochim Biophys Acta (1997) 1.35
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet (1999) 1.34
Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids. J Cell Biol (1994) 1.29
Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study. Clin Genet (1981) 1.24
Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest (1988) 1.19
Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients. Acta Ophthalmol (Copenh) (1980) 1.17
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain (2001) 1.11
Isolation of animal cell mutants defective in long-chain fatty aldehyde dehydrogenase. Sensitivity to fatty aldehydes and Schiff's base modification of phospholipids: implications for Sj-ogren-Larsson syndrome. J Biol Chem (1997) 1.01
Sjögren-Larsson syndrome. Semin Dermatol (1993) 0.98
The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nat Genet (1994) 0.98
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). Genomics (1997) 0.97
Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma. J Lipid Res (2000) 0.96
Aldehyde dehydrogenase. Maintaining critical active site geometry at motif 8 in the class 3 enzyme. Eur J Biochem (2001) 0.95
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome. J Neurol Sci (2001) 0.95
Some properties of the fatty alcohol oxidation system and reconstitution of microsomal oxidation activity in intestinal mucosa. Biochim Biophys Acta (1986) 0.92
Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins. Am J Hum Genet (1995) 0.91
Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. Genomics (1997) 0.89
Ultrastructural study of the skin in Sjögren-Larsson syndrome. Arch Dermatol Res (1991) 0.87
Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome. J Invest Dermatol (2004) 0.87
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. Hum Mutat (1998) 0.85
Beyond the catalytic core of ALDH: a web of important residues begins to emerge. Chem Biol Interact (2001) 0.84
Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome. J Invest Dermatol (2006) 0.79
Diagnosing Sjögren-Larsson syndrome in a 7-year-old Moroccan boy. J Cutan Pathol (2007) 0.78
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol (2005) 6.27
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science (2013) 5.34
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
TAp73 knockout shows genomic instability with infertility and tumor suppressor functions. Genes Dev (2008) 4.85
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol (2008) 3.72
The HECT family of E3 ubiquitin ligases: multiple players in cancer development. Cancer Cell (2008) 3.35
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet (2007) 2.75
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol (2007) 2.52
TSH receptor and thyroid-specific gene expression in human skin. J Invest Dermatol (2010) 2.50
Analysis of glutathione: implication in redox and detoxification. Clin Chim Acta (2003) 2.48
Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis (2012) 2.46
The ubiquitin-protein ligase Itch regulates p73 stability. EMBO J (2005) 2.38
Good manufacturing practice production of self-complementary serotype 8 adeno-associated viral vector for a hemophilia B clinical trial. Hum Gene Ther (2011) 2.29
Demonstration of epitope-spreading phenomena in bullous pemphigoid: results of a prospective multicenter study. J Invest Dermatol (2011) 2.27
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
The p53 family: guardians of maternal reproduction. Nat Rev Mol Cell Biol (2011) 2.13
Isoform-specific p73 knockout mice reveal a novel role for delta Np73 in the DNA damage response pathway. Genes Dev (2010) 2.06
MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1. Circulation (2009) 2.05
Inhibition of the c-Abl-TAp63 pathway protects mouse oocytes from chemotherapy-induced death. Nat Med (2009) 2.03
The E3 ubiquitin ligase Itch controls the protein stability of p63. Proc Natl Acad Sci U S A (2006) 2.01
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet (2004) 1.99
Loss of p63 and its microRNA-205 target results in enhanced cell migration and metastasis in prostate cancer. Proc Natl Acad Sci U S A (2012) 1.97
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol (2004) 1.95
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J (2007) 1.92
Functional association between Wwox tumor suppressor protein and p73, a p53 homolog. Proc Natl Acad Sci U S A (2004) 1.91
TAp63alpha induces apoptosis by activating signaling via death receptors and mitochondria. EMBO J (2005) 1.90
MiR-203 controls proliferation, migration and invasive potential of prostate cancer cell lines. Cell Cycle (2011) 1.89
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet (2004) 1.89
Tissue transglutaminase does not affect fibrotic matrix stability or regression of liver fibrosis in mice. Gastroenterology (2011) 1.85
TAp63 and DeltaNp63 in cancer and epidermal development. Cell Cycle (2007) 1.84
Methotrexate treatment in juvenile localized scleroderma: a randomized, double-blind, placebo-controlled trial. Arthritis Rheum (2011) 1.83
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
miRNAs as serum biomarkers for Duchenne muscular dystrophy. EMBO Mol Med (2011) 1.80
The impact of p53 and p73 on aneuploidy and cancer. Trends Cell Biol (2008) 1.76
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis (2014) 1.73
DeltaNp63 regulates thymic development through enhanced expression of FgfR2 and Jag2. Proc Natl Acad Sci U S A (2007) 1.70
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol (2003) 1.67
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet (2004) 1.66
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat (2011) 1.65
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet (2002) 1.64
New functions of XPC in the protection of human skin cells from oxidative damage. EMBO J (2006) 1.60
microRNA-34a regulates neurite outgrowth, spinal morphology, and function. Proc Natl Acad Sci U S A (2011) 1.60
Neuronal differentiation by TAp73 is mediated by microRNA-34a regulation of synaptic protein targets. Proc Natl Acad Sci U S A (2011) 1.58
Mice overexpressing placenta growth factor exhibit increased vascularization and vessel permeability. J Cell Sci (2002) 1.56
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology (2013) 1.55
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
Short-term survival of hyperammonemic neonates treated with dialysis. Pediatr Nephrol (2014) 1.54
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol (2003) 1.54
Regulation of the apoptosis-necrosis switch. Oncogene (2004) 1.54
FLASH and NPAT positive but not Coilin positive Cajal Bodies correlate with cell ploidy. Cell Cycle (2008) 1.52
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52
Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis. J Invest Dermatol (2011) 1.51
Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma. Genes Chromosomes Cancer (2008) 1.50
p63, a story of mice and men. J Invest Dermatol (2011) 1.50
New p63 targets in keratinocytes identified by a genome-wide approach. EMBO J (2006) 1.50
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.50
Transglutaminase 2-/- mice reveal a phagocytosis-associated crosstalk between macrophages and apoptotic cells. Proc Natl Acad Sci U S A (2003) 1.48
Cardiac and pulmonary investigations in Bethlem myopathy. Arch Neurol (2006) 1.47
Negative regulation of the Hippo pathway by E3 ubiquitin ligase ITCH is sufficient to promote tumorigenicity. Cancer Res (2011) 1.47
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
TAp73 depletion accelerates aging through metabolic dysregulation. Genes Dev (2012) 1.45
Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil (2007) 1.44
Distinct vascular endothelial growth factor signals for lymphatic vessel enlargement and sprouting. J Exp Med (2007) 1.43
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Sequential intramolecular epitope spreading of humoral responses to human BPAG2 in a transgenic model. J Invest Dermatol (2009) 1.43
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol (2002) 1.42
p73 induces apoptosis by different mechanisms. Biochem Biophys Res Commun (2005) 1.42
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. J Invest Dermatol (2004) 1.42
One, two, three--p53, p63, p73 and chemosensitivity. Drug Resist Updat (2007) 1.41
p63-microRNA feedback in keratinocyte senescence. Proc Natl Acad Sci U S A (2012) 1.41
Annular lichenoid dermatitis of youth. J Am Acad Dermatol (2003) 1.40
Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis (2013) 1.40
A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis. J Invest Dermatol (2004) 1.39
Isoform-specific monoubiquitination, endocytosis, and degradation of alternatively spliced ErbB4 isoforms. Proc Natl Acad Sci U S A (2008) 1.39
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet (2005) 1.38
Tissue transglutaminase contributes to interstitial renal fibrosis by favoring accumulation of fibrillar collagen through TGF-beta activation and cell infiltration. Am J Pathol (2008) 1.38
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat (2011) 1.36
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat (2005) 1.36
p63 is upstream of IKK alpha in epidermal development. J Cell Sci (2006) 1.35