Research TopicsGenomes and Genes
| RABGAP1LSummaryGene Symbol: RABGAP1L Description: RAB GTPase activating protein 1 like Alias: HHL, TBC1D18, rab GTPase-activating protein 1-like, TBC1 domain family, member 18, expressed in hematopoietic cells, heart, liver (HLL) Species: human Products: RABGAP1L Top Publications
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Publications
- Di Stazio M, Collesi C, Vozzi D, Liu W, Myers M, Morgan A, et al. TBL1Y: a new gene involved in syndromic hearing loss. Eur J Hum Genet. 2019;27:466-474 pubmed publisherHereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms...
- Sakr M, Aboshanab K, Elkhatib W, Yassien M, Hassouna N. Overexpressed recombinant quorum quenching lactonase reduces the virulence, motility and biofilm formation of multidrug-resistant Pseudomonas aeruginosa clinical isolates. Appl Microbiol Biotechnol. 2018;102:10613-10622 pubmed publisher..violaceum CV026 as a biosensor, displayed good catalytic activity using hexanoyl homoserine lactone (HHL) as a substrate and Chromobacterium violaceum (CV026) as a biosensor (77...
- Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, et al. Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. Eur J Hum Genet. 2019;27:70-79 pubmed publisherHereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts, additional HHL-genes and ARHL genetic risk factors still need to be identified...
- Avsar G, Agirbasli D, Ağırbaşlı M, Gunduz O, Oner E. Levan based fibrous scaffolds electrospun via co-axial and single-needle techniques for tissue engineering applications. Carbohydr Polym. 2018;193:316-325 pubmed publisher..For this, hydrolyzed (hHL) and sulfated hydrolyzed (ShHL) Halomonas levan were chemically synthesized and used together with polycaprolactone ..
- Asai A, Karnan S, Ota A, Takahashi M, Damdindorj L, Konishi Y, et al. High-resolution 400K oligonucleotide array comparative genomic hybridization analysis of neurofibromatosis type 1-associated cutaneous neurofibromas. Gene. 2015;558:220-6 pubmed publisher..2 (33%, fam19a3), 1q21.1 (44%, rabgap1l), 2q37.1 (56%, inpp5d), 3p25.1 (67%, chchd4), 4p15.32 (56%, fgfbp1), 5q11.2 (56%, arl15), 6q22...
- Yao Y, Cui X, Al Ramahi I, Sun X, Li B, Hou J, et al. A striatal-enriched intronic GPCR modulates huntingtin levels and toxicity. elife. 2015;4: pubmed publisher..Gpr52 modulates Htt via cAMP-dependent but PKA independent mechanisms. Gpr52 is located within an intron of Rabgap1l, which exhibits epistatic effects on Gpr52-mediated modulation of Htt levels by inhibiting its substrate Rab39B, ..
- Sharifi N, Souri E, Ziai S, Amin G, Amanlou M. Discovery of new angiotensin converting enzyme (ACE) inhibitors from medicinal plants to treat hypertension using an in vitro assay. Daru. 2013;21:74 pubmed publisher..The ACE activity was evaluated by determining the hydrolysis rate of substrate, hippuryl-L-histidyl-L-leucine (HHL), using reverse phase high performance liquid chromatography (RP-HPLC)...
- Xiao Y, Chen X, Shi H, Yang Y, He L, Dong J, et al. Evaluation of airway obstruction at soft palate level in male patients with obstructive sleep apnea/hypopnea syndrome: dynamic 3-dimensional CT imaging of upper airway. J Huazhong Univ Sci Technolog Med Sci. 2011;31:413 pubmed publisher..region (mXSA-RP), and the vertical distance from the hard palate to the upper posterior part of the hyoid (hhL) were compared between the two breathing states...
- Inoue K, Kitade M, Hino T, Oka H. Screening assay of angiotensin-converting enzyme inhibitory activity from complex natural colourants and foods using high-throughput LC-MS/MS. Food Chem. 2011;126:1909-15 pubmed publisher..When a target sample was subjected to N-Hippuryl-His-Leu (HHL) and ACE in phosphate buffer (pH 7.4), generated hippuric acid (HA) was extracted by SPE...
- Chen J, Kaiyala K, Lam J, Agrawal N, Nguyen L, Ogimoto K, et al. In vivo structure-function studies of human hepatic lipase: the catalytic function rescues the lean phenotype of HL-deficient (hl-/-) mice. Physiol Rep. 2015;3: pubmed publisher..As expected, HL activity in postheparin plasma was restored to physiologic levels only in hHL-transgenic mice (hl(-/-)hHL)...
- Boero L, Castagna V, Di Guilmi M, Goutman J, Elgoyhen A, Gómez Casati M. Enhancement of the Medial Olivocochlear System Prevents Hidden Hearing Loss. J Neurosci. 2018;38:7440-7451 pubmed publisher..These functional deficits in hearing, without changes in sensitivity, have been called hidden hearing loss (HHL)...
- Wang C, Tu M, Wu D, Chen H, Chen C, Wang Z, et al. Identification of an ACE-Inhibitory Peptide from Walnut Protein and Its Evaluation of the Inhibitory Mechanism. Int J Mol Sci. 2018;19: pubmed publisher..the amount of hippuric acid (HA) generated from the ACE decomposition substrate (hippuryl-l-histidyl-l-leucine (HHL) to assess the ACE activity...
- Zarazaga L, Gatica M, Gallego Calvo L, Guzman J. The reproductive performance of female goats treated with melatonin is not improved after introduction to bucks displaying springtime sexual activity if these does are experiencing decreasing body weight/condition score. Anim Reprod Sci. 2017;179:57-66 pubmed publisher..maintenance requirements so they would experience increasing BW and BCS; and 2) high BW/high BCS animals (N=29) (HHl group), which were fed 0.4 times their maintenance requirements so they would experience decreasing BW and BCS...
- Li Y, Zhang Y, Gao Y, Zhang W, Cui X, Liu J, et al. Arsenic Induces Thioredoxin 1 and Apoptosis in Human Liver HHL-5 Cells. Biol Trace Elem Res. 2018;181:234-241 pubmed publisher..in this study the effect of arsenic on thioredoxin (Trx) and the apoptotic signaling pathways in human liver HHL-5 cells...
- Martella A, Silvestri C, Maradonna F, Gioacchini G, Allarà M, Radaelli G, et al. Bisphenol A Induces Fatty Liver by an Endocannabinoid-Mediated Positive Feedback Loop. Endocrinology. 2016;157:1751-63 pubmed publisher..of fatty acid amide hydrolase, the main anandamide hydrolytic enzyme, and induced triglyceride accumulation in HHL-5 cells in a CB1-dependent manner...
- Alkowari M, Vozzi D, Bhagat S, Krishnamoorthy N, Morgan A, Hayder Y, et al. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res. 2017;800-802:29-36 pubmed publisher..In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations...
- Mu X, Zhang C, Xu D. QM/MM investigation of the catalytic mechanism of angiotensin-converting enzyme. J Mol Model. 2016;22:132 pubmed publisher..The hydrolysis of hippuryl-histidyl-leucine (HHL) as catalyzed by the N-domain of human somatic ACE was explored, and the effects of chloride ion on the overall ..
- Girotto G, Scheffer D, Morgan A, Vozzi D, Rubinato E, Di Stazio M, et al. PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss. Sci Rep. 2015;5:18568 pubmed publisherHereditary Hearing Loss (HHL) is an extremely heterogeneous disorder. Approximately 30 out of 80 known HHL genes are associated with autosomal dominant forms...
- Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan Heggen C, et al. Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. Arch Iran Med. 2016;19:720-728 pubmed..Given that consanguine populations are more vulnerable to most inherited diseases, such as hereditary hearing loss (HHL), the genetic picture of HHL among the Iranian population, which consists of at least eight ethnic subgroups with a ..
- Chen W, Huang Y, Yang X, Duan B, Lu P, Wang Y, et al. The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants. Int J Pediatr Otorhinolaryngol. 2016;84:48-51 pubmed publisherThe gap junction ?2 (GJB2) gene is associated with more than half of the recessive forms of hereditary hearing loss (HHL). However, the correlation between p.V27I and p.E114G variants of GJB2 and hearing phenotype remains controversial...
- Kakade P, Budnar S, Kalraiya R, Vaidya M. Functional Implications of O-GlcNAcylation-dependent Phosphorylation at a Proximal Site on Keratin 18. J Biol Chem. 2016;291:12003-13 pubmed publisher..An immortalized hepatocyte cell line (HHL-17) stably expressing site-specific single, double, and triple O-GlcNAc and phosphomutants of K18 were used to ..
- Hao E, Yu J, Xie S, Zhang W, Wang G. Up-regulation of miR-888-5p in hepatocellular carcinoma cell lines and its effect on malignant characteristics of cells. J Biol Regul Homeost Agents. 2017;31:163-169 pubmed..SMMC7721, HepG2, Huh-7 and Bel7402) were significantly up-regulated compared with human hepatocyte cell line (HHL-5)...
- Shafaei A, Sultan Khan M, F A Aisha A, Abdul Majid A, Hamdan M, Mordi M, et al. Flavonoids-Rich Orthosiphon stamineus Extract as New Candidate for Angiotensin I-Converting Enzyme Inhibition: A Molecular Docking Study. Molecules. 2016;21: pubmed..activity relied on determining hippuric acid (HA) formation from ACE-specific substrate (hippuryl-histidyl-leucine (HHL)) by the action of ACE enzyme...
- Danilov S, Tikhomirova V, Metzger R, Naperova I, Bukina T, Goker Alpan O, et al. ACE phenotyping in Gaucher disease. Mol Genet Metab. 2018;123:501-510 pubmed publisher..ACE phenotyping included 1) immunohistochemical staining for ACE; 2) measuring ACE activity with two substrates (HHL and ZPHL); 3) calculating the ratio of the rates of substrate hydrolysis (ZPHL/HHL ratio); 4) assessing the ..
- Sloan Heggen C, Babanejad M, Beheshtian M, Simpson A, Booth K, Ardalani F, et al. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015;52:823-9 pubmed publisher..Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing ..
- Gallego Calvo L, Gatica M, Guzman J, Zarazaga L. Reproductive responses to sexually active buck of does treated with melatonin when body weight/body condition is increasing or decreasing. Anim Reprod Sci. 2018;190:75-84 pubmed publisher..4 times maintenance requirements for dietary energy that resulted in a loss of BW/BC (HHl group; n?=?23)...
- Ryu N, Lee S, Park H, Lee B, Kwon T, Bok J, et al. Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing. Gene. 2017;627:233-238 pubmed publisherHereditary hearing loss (HHL) is a common genetically heterogeneous disorder, which follows Mendelian inheritance in humans...
- Wan G, Corfas G. Transient auditory nerve demyelination as a new mechanism for hidden hearing loss. Nat Commun. 2017;8:14487 pubmed publisherHidden hearing loss (HHL) is a recently described auditory neuropathy believed to contribute to speech discrimination and intelligibility deficits in people with normal audiological tests...
- de Yebra L, Adroer R, de Gregorio Rocasolano N, Blesa R, Trullas R, Mahy N. Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?. Hum Mol Genet. 2004;13:2607-12 pubmed..In addition, they may open a new area of research for diagnostic and therapeutic tools, the relevance of which is also considered. ..
- Qu F, LORENZO D, King S, Brooks R, Bear J, Bennett V. Ankyrin-B is a PI3P effector that promotes polarized ?5?1-integrin recycling via recruiting RabGAP1L to early endosomes. elife. 2016;5: pubmed publisher..We demonstrate that AnkB binds to Rab GTPase Activating Protein 1-Like (RabGAP1L) and recruits it to PI3P-positive organelles, where RabGAP1L inactivates Rab22A, and promotes polarized ..
- Speek M. Antisense promoter of human L1 retrotransposon drives transcription of adjacent cellular genes. Mol Cell Biol. 2001;21:1973-85 pubmed..These results indicate that many L1Hs contain active ASPs which are capable of interfering with normal gene expression, and this type of transcriptional control may be widespread. ..
- Naffa R, Holmes G, Ahn M, Harding D, Norris G. Liquid chromatography-electrospray ionization mass spectrometry for the simultaneous quantitation of collagen and elastin crosslinks. J Chromatogr A. 2016;1478:60-67 pubmed publisher..This is the first method in which histidinohydroxylysinonorleucine (HHL) and histidinohydroxymero-desmosine (HHMD) were separated and identified by mass spectrometry without the need for ..
- Cedó L, Santos D, Roglans N, Julve J, Pallarés V, Rivas Urbina A, et al. Human hepatic lipase overexpression in mice induces hepatic steatosis and obesity through promoting hepatic lipogenesis and white adipose tissue lipolysis and fatty acid uptake. PLoS ONE. 2017;12:e0189834 pubmed publisherHuman hepatic lipase (hHL) is mainly localized on the hepatocyte cell surface where it hydrolyzes lipids from remnant lipoproteins and high density lipoproteins and promotes their hepatic selective uptake...
- Popovic D, Akutsu M, Novak I, Harper J, Behrends C, Dikic I. Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. Mol Cell Biol. 2012;32:1733-44 pubmed publisher..We propose that LC3-interacting Rab GAPs are implicated in the reprogramming of the endocytic trafficking events under starvation-induced autophagy. ..
- Kwansa A, De Vita R, Freeman J. Tensile mechanical properties of collagen type I and its enzymatic crosslinks. Biophys Chem. 2016;214-215:1-10 pubmed publisher..of ~65-nm-long microfibril units were used to predict how difunctional (deH-HLNL and HLKNL) and trifunctional (HHL and PYD) crosslinks respond to mechanical deformation...
- Kim J, Jung S, Bae J, Lee H, Yim S, Park S, et al. Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women. Arthritis Rheum. 2013;65:1055-63 pubmed publisher..In the independent replication, the CNV regions in 1q25.1 (RABGAP1L) and 10q21.3 were successfully replicated (odds ratio [OR] 1.30, P=0.038 and OR 1.90, P=3...
- Jones E, Lesosky M, Blockman M, Castel S, Decloedt E, Schwager S, et al. Therapeutic drug monitoring of amlodipine and the Z-FHL/HHL ratio: Adherence tools in patients referred for apparent treatment-resistant hypertension. S Afr Med J. 2017;107:887-891 pubmed publisher..amlodipine was assayed using liquid chromatography-mass spectrometry and degree of ACE inhibition using the Z-FHL/HHL (z-phenylalanine-histidine-leucine/hippuryl-histidine-leucine) ratio...
- Kolsi R, Fakhfakh J, Krichen F, Jribi I, Chiarore A, Patti F, et al. Structural characterization and functional properties of antihypertensive Cymodocea nodosa sulfated polysaccharide. Carbohydr Polym. 2016;151:511-522 pubmed publisher..43mgml) with a dose-dependent manner using a synthetic substrate, N-hippuryl-His-Leu hydrate salt (HHL)...
- Hidaka M, Caruana G, Stanford W, Sam M, Correll P, Bernstein A. Gene trapping of two novel genes, Hzf and Hhl, expressed in hematopoietic cells. Mech Dev. 2000;90:3-15 pubmed..an expression gene trapping strategy, we have identified and characterized two novel hematopoietic genes, Hzf and Hhl. Embryonic stem (ES) cells containing a gene trap vector insertion were cultured on OP9 stromal cells to induce ..