| Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions. | Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.
Kleynerman A, Rybova J, Faber ML, McKillop WM, Levade T, Medin JA., Free PMC Article | 03/1/2023 |
| N-acylsphingosine amidohydrolase 1 promotes melanoma growth and metastasis by suppressing peroxisome biogenesis-induced ROS production. | N-acylsphingosine amidohydrolase 1 promotes melanoma growth and metastasis by suppressing peroxisome biogenesis-induced ROS production.
Malvi P, Janostiak R, Nagarajan A, Zhang X, Wajapeyee N., Free PMC Article | 01/22/2022 |
| The interaction of ASAH1 and NGF gene involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility and psychopathology. | The interaction of ASAH1 and NGF gene involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility and psychopathology.
Su Y, Yang L, Li Z, Wang W, Xing M, Fang Y, Cheng Y, Lin GN, Cui D. | 12/4/2021 |
| ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. | ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. | 11/13/2021 |
| ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype. | ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Mahmoud IG, Elmonem MA, Zaki MS, Ramadan A, Al-Menabawy NM, El-Gamal A, Mansour L, Issa MY, Abdel-Hamid MS, Abdel-Hady S, Khalifa I, Ibrahim A, Solyom A, Rolfs A, Selim L. | 08/21/2021 |
| Acid ceramidase promotes senescent cell survival. | Acid ceramidase promotes senescent cell survival.
Munk R, Anerillas C, Rossi M, Tsitsipatis D, Martindale JL, Herman AB, Yang JH, Roberts JA, Varma VR, Pandey PR, Thambisetty M, Gorospe M, Abdelmohsen K., Free PMC Article | 07/24/2021 |
| Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal Cancer. | Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal Cancer.
Clifford RE, Govindarajah N, Bowden D, Sutton P, Glenn M, Darvish-Damavandi M, Buczacki S, McDermott U, Szulc Z, Ogretmen B, Parsons JL, Vimalachandran D., Free PMC Article | 06/19/2021 |
| Farber disease in a patient from China. | Farber disease in a patient from China.
Bao X, Ma M, Zhang Z, Xu Y, Qiu Z. | 06/12/2021 |
| Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report. | Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
Lee BH, Mongiovi P, Levade T, Marston B, Mountain J, Ciafaloni E. | 06/5/2021 |
| Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content. | Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
Kyriakou K, Lederer CW, Kleanthous M, Drousiotou A, Malekkou A., Free PMC Article | 12/12/2020 |
| Pediatric ependymoma: GNAO1, ASAH1, IMMT and IPO7 protein expression and 5-year prognosis correlation. | Pediatric ependymoma: GNAO1, ASAH1, IMMT and IPO7 protein expression and 5-year prognosis correlation.
Pérez-Ramírez M, García-Méndez A, Siordia-Reyes AG, Chavarría A, Gómez C, García-Hernández N. | 11/21/2020 |
| The data suggest that endoreplication occurs independent of ASAH1 while neosis is ASAH1-dependent in both prostate and lung cancer cells. | Genetic and pharmacological inhibition of acid ceramidase prevents asymmetric cell division by neosis.
White-Gilbertson S, Lu P, Norris JS, Voelkel-Johnson C., Free PMC Article | 07/18/2020 |
| Mutational analyses revealed new mutations in the ASAH1 gene and a broad diversity of phenotypes without a genotype/phenotype correlation in Farber disease patients. | Allogeneic hematopoietic cell transplantation in Farber disease.
Ehlert K, Levade T, Di Rocco M, Lanino E, Albert MH, Führer M, Jarisch A, Güngör T, Ayuk F, Vormoor J. | 06/20/2020 |
| induction of ASAH1 could rescue retinal cells from oxidative stress by hydrolyzing excess Cers | Overexpression of acid ceramidase (ASAH1) protects retinal cells (ARPE19) from oxidative stress.
Sugano E, Edwards G, Saha S, Wilmott LA, Grambergs RC, Mondal K, Qi H, Stiles M, Tomita H, Mandal N., Free PMC Article | 02/15/2020 |
| AC may be implicated in the response of rectal cancer to Neoadjuvant chemoradiotherapy. We propose its further assessment as a novel potential biomarker and therapeutic target. | Proteomic profiling of rectal cancer reveals acid ceramidase is implicated in radiation response.
Bowden DL, Sutton PA, Wall MA, Jithesh PV, Jenkins RE, Palmer DH, Goldring CE, Parsons JL, Park BK, Kitteringham NR, Vimalachandran D. | 08/10/2019 |
| The expression of ASAH1 was associated significantly with lymph nodes metastasis, indicating that ASAH1 may serve as a biomarker to predict patients' lymph nodes status in breast cancers. | The value of detection of S100A8 and ASAH1 in predicting the chemotherapy response for breast cancer patients.
Li YH, Liu HT, Xu J, Xing AY, Zhang J, Wang YW, Yin G, Gao P. | 03/9/2019 |
| We also identified ASAH1 as a new target of MITF, thereby involving MITF in the regulation of sphingolipid metabolism. Together, our findings provide new cues to the mechanisms underlying the phenotypic plasticity of melanoma cells and identify new anti-metastatic targets. | Lysosomal acid ceramidase ASAH1 controls the transition between invasive and proliferative phenotype in melanoma cells.
Leclerc J, Garandeau D, Pandiani C, Gaudel C, Bille K, Nottet N, Garcia V, Colosetti P, Pagnotta S, Bahadoran P, Tondeur G, Mograbi B, Dalle S, Caramel J, Levade T, Ballotti R, Andrieu-Abadie N, Bertolotto C. | 03/9/2019 |
| Acid ceramidase ablation blocks cell cycle progression and accelerates senescence. Importantly, ASAH1-null cells also lose the ability to form cancer-initiating cells and to undergo self-renewal, which is suggestive of a key role for acid ceramidase in maintaining malignancy and self-renewal of invasive melanoma cells. | Complete Acid Ceramidase ablation prevents cancer-initiating cell formation in melanoma cells.
Lai M, Realini N, La Ferla M, Passalacqua I, Matteoli G, Ganesan A, Pistello M, Mazzanti CM, Piomelli D., Free PMC Article | 02/23/2019 |
| Autocleavage of ASAH1 triggers a conformational change exposing a hydrophobic channel leading to the active site. | Structural basis for the activation of acid ceramidase.
Gebai A, Gorelik A, Li Z, Illes K, Nagar B., Free PMC Article | 02/9/2019 |
| results demonstrate a tissue-specific role for AC in regulating neutrophilic inflammation and cytokine production. | Loss of acid ceramidase in myeloid cells suppresses intestinal neutrophil recruitment.
Espaillat MP, Snider AJ, Qiu Z, Channer B, Coant N, Schuchman EH, Kew RR, Sheridan BS, Hannun YA, Obeid LM., Free PMC Article | 01/12/2019 |
| Acid ceramidase plays a critical role in acute myeloid leukemia cell survival via regulation of both sphingolipid levels and Mcl-1. | Acid ceramidase is upregulated in AML and represents a novel therapeutic target.
Tan SF, Liu X, Fox TE, Barth BM, Sharma A, Turner SD, Awwad A, Dewey A, Doi K, Spitzer B, Shah MV, Morad SA, Desai D, Amin S, Zhu J, Liao J, Yun J, Kester M, Claxton DF, Wang HG, Cabot MC, Schuchman EH, Levine RL, Feith DJ, Loughran TP Jr., Free PMC Article | 02/24/2018 |
| Collectively, our data show the novel discovery of anti-inflammatory and anti-apoptotic effects of acid ceramidase in host cells exposed to periodontal bacteria, and the attenuation of the expression of host-protective acid ceramidase in periodontal lesions. | Endogenous acid ceramidase protects epithelial cells from Porphyromonas gingivalis-induced inflammation in vitro.
Azuma MM, Balani P, Boisvert H, Gil M, Egashira K, Yamaguchi T, Hasturk H, Duncan M, Kawai T, Movila A., Free PMC Article | 02/24/2018 |
| we describe an individual with a sporadic atypical spinal muscular atrophy, in whom clinical DNA sequencing reported one pathogenic ASAH1 mutation .Transcriptome sequencing on patient leukocytes identified a highly significant and atypical ASAH1 isoform not explained by c.458A>G(p<10(-16) ). | Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J., Free PMC Article | 02/24/2018 |
| ASAH1 variant Leu401Pro co-segregates with keloid phenotype in a large Yoruba family. | Identification of ASAH1 as a susceptibility gene for familial keloids.
Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ., Free PMC Article | 12/16/2017 |
| We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge. | Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Kim SY, Choi SA, Lee S, Lee JS, Hong CR, Lim BC, Kang HJ, Kim KJ, Park SH, Choi M, Chae JH. | 10/21/2017 |