Published in Trends Endocrinol Metab on November 03, 2005
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev (2010) 4.95
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol (Oxf) (2009) 1.34
Melanocortin 2 receptor is required for adrenal gland development, steroidogenesis, and neonatal gluconeogenesis. Proc Natl Acad Sci U S A (2007) 1.18
Trafficking of G-protein-coupled receptors to the plasma membrane: insights for pharmacoperone drugs. Trends Endocrinol Metab (2009) 1.12
Structure and function of the melanocortin2 receptor accessory protein (MRAP). Mol Cell Endocrinol (2008) 1.10
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface. J Clin Endocrinol Metab (2008) 1.07
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol (Oxf) (2007) 1.06
Pharmacological chaperones for misfolded gonadotropin-releasing hormone receptors. Adv Pharmacol (2011) 0.91
Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report. J Korean Med Sci (2009) 0.88
G protein-coupled receptors: what a difference a 'partner' makes. Int J Mol Sci (2014) 0.86
Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations. Eur J Endocrinol (2009) 0.79
Familial glucocorticoid deficiency type 2: a case report. J Clin Res Pediatr Endocrinol (2010) 0.78
The impact of ACTH receptor knockdown on fetal and adult ovine adrenocortical cell function. Reprod Sci (2008) 0.78
Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. Eur J Endocrinol (2009) 0.75
Third transmembrane domain of the adrenocorticotropic receptor is critical for ligand selectivity and potency. J Biol Chem (2015) 0.75
Guidelines for the nomenclature of the human heat shock proteins. Cell Stress Chaperones (2008) 4.30
Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med (2005) 2.96
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J Cell Sci (2002) 2.65
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet (2008) 2.46
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Not all J domains are created equal: implications for the specificity of Hsp40-Hsp70 interactions. Protein Sci (2005) 2.10
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet (2005) 1.95
Targeting amyloid-beta in glaucoma treatment. Proc Natl Acad Sci U S A (2007) 1.77
Oxidative stress affects the junctional integrity of retinal pigment epithelial cells. Invest Ophthalmol Vis Sci (2004) 1.75
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab (2009) 1.68
Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa. Hum Mol Genet (2008) 1.52
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. J Clin Invest (2006) 1.44
Suppression of protein aggregation by chaperone modification of high molecular weight complexes. Brain (2012) 1.42
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J Clin Invest (2012) 1.39
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum Mol Genet (2012) 1.38
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. Hum Mol Genet (2002) 1.35
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet (2012) 1.34
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol (Oxf) (2009) 1.34
HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome. Curr Biol (2005) 1.33
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. Hum Mol Genet (2010) 1.32
MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family. Proc Natl Acad Sci U S A (2009) 1.31
The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation. J Biol Chem (2003) 1.28
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain (2007) 1.25
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. Hum Mol Genet (2002) 1.25
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci (2005) 1.25
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev (2011) 1.24
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat (2012) 1.23
Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina. J Neurosci (2009) 1.22
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. Invest Ophthalmol Vis Sci (2007) 1.21
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care (2011) 1.19
A dual role for EDEM1 in the processing of rod opsin. J Cell Sci (2009) 1.18
Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant. Hum Mol Genet (2010) 1.15
Morphologic and immunophenotypic properties of neoplastic cells in a case of mast cell sarcoma. Am J Surg Pathol (2003) 1.14
Late stage treatment with arimoclomol delays disease progression and prevents protein aggregation in the SOD1 mouse model of ALS. J Neurochem (2008) 1.13
The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse y1 cell line. Endocrinology (2007) 1.12
Treatment with extracellular HSP70/HSC70 protein can reduce polyglutamine toxicity and aggregation. J Neurochem (2005) 1.11
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Hum Mol Genet (2009) 1.09
Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking. Endocrinology (2008) 1.09
Familial glucocorticoid deficiency: New genes and mechanisms. Mol Cell Endocrinol (2012) 1.09
Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2. Invest Ophthalmol Vis Sci (2002) 1.07
Mutations in the CACNA1F and NYX genes in British CSNBX families. Hum Mutat (2003) 1.07
The cell stress machinery and retinal degeneration. FEBS Lett (2013) 1.07
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex. Invest Ophthalmol Vis Sci (2008) 1.07
The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development. Invest Ophthalmol Vis Sci (2003) 1.06
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol (Oxf) (2007) 1.06
Molecular chaperones and photoreceptor function. Prog Retin Eye Res (2008) 1.04
Nuclear translocation of the Hsp70/Hsp90 organizing protein mSTI1 is regulated by cell cycle kinases. J Cell Sci (2004) 1.02
The genetics of familial glucocorticoid deficiency. Best Pract Res Clin Endocrinol Metab (2009) 1.01
The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology. Hum Mol Genet (2010) 0.99
Calnexin is not essential for mammalian rod opsin biogenesis. Mol Vis (2008) 0.97
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2013) 0.97
The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments. J Biol Chem (2004) 0.96
X-linked cone dystrophy caused by mutation of the red and green cone opsins. Am J Hum Genet (2010) 0.96
Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol (2009) 0.96
Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab (2006) 0.96
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab (2014) 0.96
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. Orphanet J Rare Dis (2013) 0.96
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci (2002) 0.95
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. J Neurol Sci (2010) 0.95
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. Eur J Pediatr (2012) 0.94
Effects of melanocortins on adrenal gland physiology. Eur J Pharmacol (2011) 0.93
Hsp90 inhibition protects against inherited retinal degeneration. Hum Mol Genet (2013) 0.93
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. Clin Endocrinol (Oxf) (2009) 0.92
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. Hum Mol Genet (2007) 0.92
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic. Hum Mol Genet (2011) 0.92
Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins. Vision Res (2012) 0.92
Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2. Gene (2005) 0.92
Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis. PLoS One (2013) 0.91
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities. Muscle Nerve (2007) 0.90
Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. Invest Ophthalmol Vis Sci (2011) 0.90
Predominant rod photoreceptor degeneration in Leber congenital amaurosis. Mol Vis (2005) 0.90
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat (2005) 0.90
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain (2006) 0.90
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. Hum Genet (2002) 0.89
Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Pediatr Nephrol (2004) 0.89
Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. Exp Eye Res (2005) 0.89
BiP prevents rod opsin aggregation. Mol Biol Cell (2012) 0.89
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Hum Mutat (2009) 0.89
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet (2013) 0.88
Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin. J Biol Chem (2011) 0.88
Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation. Eur J Pediatr (2008) 0.88
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy? Eur J Endocrinol (2007) 0.88
Chromosomal fragility in patients with triple A syndrome. Am J Med Genet A (2003) 0.88
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord (2011) 0.87
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. PLoS One (2012) 0.87
The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. Biochem Biophys Res Commun (2009) 0.87
The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage. Exp Cell Res (2006) 0.86
NUB1 modulation of GSK3β reduces tau aggregation. Hum Mol Genet (2012) 0.86
Downstream caspases are novel targets for the antiapoptotic activity of the molecular chaperone hsp70. Cell Stress Chaperones (2004) 0.86
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. Am J Hum Genet (2012) 0.85
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscul Disord (2003) 0.85
Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling. Invest Ophthalmol Vis Sci (2007) 0.85
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants. Hum Mutat (2014) 0.84
Variable reduction of caveolin-3 in patients with LGMD2B/MM. J Neurol (2003) 0.84
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease. J Clin Endocrinol Metab (2008) 0.84