Molecular genetics and metabolism最新文献

{"title":"Corrigendum to \"Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]\".","authors":"Andrew C Edmondson, Tomas Honzik, Christina Lam, Katrin Ounap, Peter McWilliams, Eva Morava","doi":"10.1016/j.ymgme.2025.109252","DOIUrl":"https://doi.org/10.1016/j.ymgme.2025.109252","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":" ","pages":"109252"},"PeriodicalIF":3.5,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145302068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).","authors":"Xueyang Pan, Yue Wang, Ning Liu, Xi Luo, V Reid Sutton, William J Craigen, Qin Sun","doi":"10.1016/j.ymgme.2025.109260","DOIUrl":"https://doi.org/10.1016/j.ymgme.2025.109260","url":null,"abstract":"<p><p>Large deletions in multi-copy mitochondrial DNA (mtDNA) are associated with chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), and Pearson syndrome (PS), collectively referred to as single large-scale mtDNA deletion syndromes (SLSMDSs). These deletions are typically sporadic and heteroplasmic, yet the relationship between heteroplasmy levels and disease severity remains uncertain, particularly for low level deletions, making pathogenicity assessment challenging. To evaluate the functional impact of mtDNA deletions in muscle, we retrospectively analyzed 1104 consecutive clinical cases with both mtDNA sequencing and mitochondrial electron transport chain (ETC) enzyme assays performed on the same muscle specimen. Fifteen cases (1.4 %) carried a single large mtDNA deletion and exhibited clinical features consistent with the CPEO/KSS spectrum. Of these, seven showed ETC deficiencies despite low deletion heteroplasmy levels (<10 % in all cases). Four had enzyme deficiencies defined to a single complex, while three had deficiencies in multiple complexes. Complex IV was most frequently impaired, whereas nuclear-encoded complex II activity remained normal in all samples. Notably, the pattern of ETC impairment did not fully correlate with the specific mitochondrial genes disrupted by the deletions. These findings demonstrate that mitochondrial dysfunction can occur at mtDNA deletion heteroplasmy levels far below conventional pathogenic thresholds. This highlights the diagnostic relevance of low-level mtDNA deletions and supports the integration of molecular and functional testing in accurate SLSMDS diagnosis.</p>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"109260"},"PeriodicalIF":3.5,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145292996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mucopolysaccharidosis VI: Therapeutic strategies and perspectives","authors":"Andrés Felipe Leal ,&nbsp;Luis Eduardo Prieto ,&nbsp;Harry Pachajoa ,&nbsp;Shunji Tomatsu","doi":"10.1016/j.ymgme.2025.109255","DOIUrl":"10.1016/j.ymgme.2025.109255","url":null,"abstract":"<div><div>Mucopolysaccharidosis VI, also known as Maroteaux-Lamy syndrome, is a lysosomal storage disorder (LSD) caused by pathogenic mutations in the <em>ARSB</em> gene, resulting in arylsulfatase (ARSB) deficiency and the lysosomal accumulation of dermatan sulfate (DS) and chondroitin 4-sulfate (C4S). DS and C4S accumulation leads to multisystemic symptoms in MPS VI patients in cartilage, bone, heart valves, cornea, liver, and respiratory tract. Currently, enzyme replacement therapy (ERT) is the only approved treatment for patients with MPS VI, providing clinical benefits that include increased survival and improved quality of life. However, ERT has a limited impact on bone manifestations. Significant advances have been made in gene therapy (GT) using classical adeno-associated virus and the CRISPR/Cas9 system, providing promising alternatives in MPS VI. Importantly, hematopoietic stem cell transplantation (HSCT) in combination with GT may also offer a novel alternative. Additionally, substrate reduction therapy with odiparcil, immunomodulation, and stop codon read-through therapies have been explored in MPS VI. Future directions in MPS VI should include targeting cellular alterations, such as mitochondrial dysfunction, exploring cartilage-targeting alternatives, and implementing pharmacological chaperones. This manuscript highlights recent progress and emerging strategies for treating MPS VI.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109255"},"PeriodicalIF":3.5,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature","authors":"Alessia Catania ,&nbsp;Silvia Marchet ,&nbsp;Krisztina Einvag ,&nbsp;Eleonora Lamantea ,&nbsp;Ettore Salsano ,&nbsp;Daniele Ghezzi ,&nbsp;Costanza Lamperti","doi":"10.1016/j.ymgme.2025.109259","DOIUrl":"10.1016/j.ymgme.2025.109259","url":null,"abstract":"<div><h3>Background</h3><div>Mitochondrial aminoacyl tRNA synthetase (mt-ARS) related disorders represent a widely heterogeneous group of diseases affecting the efficiency of mitochondrial protein synthesis.</div><div><em>AARS2</em> and <em>DARS2</em> biallelic mutations are associated with clinical syndromes prominently characterized by diffuse leukoencephalopathy with a highly variable age of onset, ranging from early infancy to adulthood.</div><div>Preliminary in vitro results on patients' fibroblasts and some anecdotal reports on patients affected by mt-ARS related disease have suggested a possible benefit of supplementation with the specific substrate amino acid of the defective mt-ARS.</div></div><div><h3>Methods</h3><div>We recruited 6 adult patients affected by <em>AARS2</em> (<em>n</em> = 2) and <em>DARS2</em> (<em>n</em> = 4) related leukoencephalopathies and started an oral supplementation with alanine and aspartate, respectively, for a total duration of 2 years. Therapeutic efficacy and safety were assessed through clinical examinations, standardized scales, functional tests, quality of life (QoL) scores, brain MRI, and laboratory analyses.</div></div><div><h3>Results</h3><div>Overall, the treatment was safe and well tolerated by all patients, but efficacy endpoints were not met as no significant improvements were observed in global, cognitive, or motor scores.; nonetheless, all patients but one remained clinically stable.</div></div><div><h3>Conclusions</h3><div>Despite inherent limitations of this pivotal trial, our findings suggest that specific amino acid supplementation is a safe intervention but do not yield a clear symptomatic benefit; nevertheless, we cannot exclude a potential role in stabilizing the clinical condition in adult patients with <em>DARS2</em>-related disorders.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109259"},"PeriodicalIF":3.5,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145270248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria","authors":"Francis Rossignol ,&nbsp;Kristen S. Pan ,&nbsp;Monique B. Perry ,&nbsp;Joy C. Bryant ,&nbsp;Kevin J. O'Brien ,&nbsp;Irene J. Castillo ,&nbsp;Kathryn R. Spears ,&nbsp;Carlos R. Ferreira ,&nbsp;Mark D. Murphey ,&nbsp;Matthew J. Minn ,&nbsp;William A. Gahl ,&nbsp;Wendy J. Introne","doi":"10.1016/j.ymgme.2025.109251","DOIUrl":"10.1016/j.ymgme.2025.109251","url":null,"abstract":"<div><div>Alkaptonuria is associated with progressive spine disease beginning in young adulthood. Characteristic radiographic changes in the intervertebral discs are often the earliest detectable skeletal manifestations. We developed a radiographic severity score measuring spine disease at 13 levels (C2-C7, T10-S1) based upon three parameters: 1) narrowing; 2) calcification; 3) vacuum disc phenomenon. 409 sets of radiographs from 136 participants were scored and divided into: 1) a cross-sectional cohort, with the most recent visit of each individual; 2) a longitudinal cohort, for participants with multiple visits. Correlations with age, sex, clinical measurements and patient-reported outcomes were performed. Both cohorts showed correlation of spinal disease score with age. Correlations were found with pain (SF-36, Pain Disability Index) and physical function (Schober's test, SF-36, Human Activity Profile). Intra- and inter-rater reliability were high for the total score (ICC &gt; 0.95, <em>p</em> &lt; 0.001), with a minimal detectable change of 2.6 points out of a total possible score of 78. This radiographic severity score is highly reliable, correlates with age, sex, and several clinical measures of physical function and pain, and allows for the detection of clinically meaningful changes. It can also be used as an outcome measure to monitor disease progression and response to therapy.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109251"},"PeriodicalIF":3.5,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145270249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review","authors":"Barbara K. Burton ,&nbsp;Daniel Fertek ,&nbsp;Peter S. Chin ,&nbsp;Carole Ho ,&nbsp;Roberto Giugliani ,&nbsp;Johanna M.P. van den Hout ,&nbsp;Martin Magner ,&nbsp;Fatih Ezgü ,&nbsp;Moeenaldeen AlSayed ,&nbsp;Joseph Muenzer ,&nbsp;Torayuki Okuyama ,&nbsp;Simon A. Jones","doi":"10.1016/j.ymgme.2025.109248","DOIUrl":"10.1016/j.ymgme.2025.109248","url":null,"abstract":"<div><h3>Introduction</h3><div>All people with the rare, inherited, lysosomal disease mucopolysaccharidosis type II (MPS II) experience somatic manifestations, and approximately two-thirds develop neurological and cognitive impairment. There is a well-documented need for novel therapies that target the central nervous system, but it is also clear that, despite enzyme replacement therapy having been available since 2006, somatic manifestations continue to have a substantial impact on quality of life, morbidity, and life expectancy. We conducted a targeted literature review to characterize the unmet needs related to the diagnosis, treatment, and monitoring of the somatic aspects of MPS II.</div></div><div><h3>Methods</h3><div>This review was conducted between July and September 2024. Peer-reviewed publications, abstracts, reports, and posters published between 2006 and 2024 were included. Records were identified from Embase, MEDLINE, and expert sources. Abstracts were screened, and full-text review, citation cross-check, and data extraction were performed.</div></div><div><h3>Results</h3><div>Of 1293 records identified, 365 were included for data extraction. The analysis identified four major unmet needs: (1) a lack of guidelines and recommendations to help enable early diagnosis and treatment initiation, and to advise on monitoring of disease progression and treatment effectiveness; (2) limitations in the ability of current treatments to address somatic manifestations that can lead to premature death, significant morbidity, and impaired quality of life; (3) a lack of strategies and guidelines for the transition from pediatric care to adult care; and (4) significant treatment- and disease-associated burden that affects people with MPS II and their caregivers.</div></div><div><h3>Conclusions</h3><div>Significant unmet needs persist in the management of somatic manifestations of MPS II, despite the availability of approved therapies and irrespective of cognitive status. Consideration of these needs should help guide the development of novel disease management strategies, ultimately improving care for people with MPS II.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109248"},"PeriodicalIF":3.5,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145270247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction","authors":"J. Ganesh ,&nbsp;C. Donnelly ,&nbsp;A. Ligezka ,&nbsp;G. Preston ,&nbsp;E. Morava ,&nbsp;M. Breilyn ,&nbsp;I. Marin-Valencia ,&nbsp;H. Raynes ,&nbsp;N. Bansal ,&nbsp;J. Lamour ,&nbsp;C. Mintz ,&nbsp;T. Kozicz","doi":"10.1016/j.ymgme.2025.109236","DOIUrl":"10.1016/j.ymgme.2025.109236","url":null,"abstract":"<div><div>Pathogenic variants <em>TOP3A</em> gene have been recently described to cause a multisystem disorder associated with mitochondrial dysfunction in adults (Nicholls et al., 2018 [1]) and with a Bloom syndrome-like disorder in children (Martin et al., 2018 [2]).</div><div>We present the case of an 11-year-old male with homozygosity for a novel variant in <em>TOP3A</em> with myopathy, ataxia, and atrioventricular conduction defect similar to the adult cases described in the literature. He developed dilated cardiomyopathy and presented in acute decompensated heart failure requiring left ventricular assist device support as a bridge to heart transplantation. Clinical and laboratory features showed mitochondrial dysfunction confirming pathogenicity of the <em>TOP3A</em> variants. However, unlike the other pediatric cases of <em>TOP3A</em> related disease reported so far, the features of Bloom syndrome were not evident in this patient.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109236"},"PeriodicalIF":3.5,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145270250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder","authors":"Courtney Berrios ,&nbsp;Randi Gadea ,&nbsp;Meghan Strenk ,&nbsp;Twisha Nadella ,&nbsp;Jennifer Gannon ,&nbsp;Janelle Noel-MacDonnell","doi":"10.1016/j.ymgme.2025.109235","DOIUrl":"10.1016/j.ymgme.2025.109235","url":null,"abstract":"<div><h3>Purpose</h3><div>This study explores the psychosocial impact of a positive newborn screen (NBS) result for four lysosomal storage disorders (LSDs) (Fabry disease, Krabbe disease, Mucopolysaccharidosis Type I, Pompe disease) across confirmatory results.</div></div><div><h3>Methods</h3><div>Parents whose child who had a positive NBS for one of the included LSDs were recruited for a retrospective cohort (<em>n</em> = 80) or prospective, longitudinal cohorts (<em>n</em> = 50). Surveys assessed uncertainty, anxiety, intrusive or avoidant thoughts, and perceived vulnerability of their child's health. In-depth interviews explored the NBS experience and psychosocial response.</div></div><div><h3>Results</h3><div>Participants experienced uncertainty and anxiety during confirmatory testing that improved as parents received more information. Retrospective cohort surveys showed ongoing levels of anxiety and perceived vulnerability in parents of children with carrier or pseudodeficiency results closer to those with true positive or inconclusive results than to false positives of undetermined cause. Interviews indicated some parents across cohorts and confirmatory results held uncertainty about their child's health, frequent thoughts about NBS, and vulnerable views of their child.</div></div><div><h3>Conclusion</h3><div>This mixed-methods study provides evidence that NBS for LSDs may be associated with extended psychosocial impacts for some families, even if their child does not have an LSD. Lower false positive rates and additional counseling may limit the burden.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109235"},"PeriodicalIF":3.5,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145134866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease","authors":"Neelam Makhijani ,&nbsp;Myriam Boueri ,&nbsp;Bijan Abar ,&nbsp;Tracy Boggs ,&nbsp;Laura E. Case ,&nbsp;Natalia L. Gonzalez ,&nbsp;Lisa D. Hobson-Webb ,&nbsp;Sarah P. Young ,&nbsp;Priya S. Kishnani","doi":"10.1016/j.ymgme.2025.109237","DOIUrl":"10.1016/j.ymgme.2025.109237","url":null,"abstract":"<div><h3>Background</h3><div>Infantile-onset Pompe disease (IOPD) is caused by a deficiency of the enzyme acid alfa glucosidase, resulting in glycogen accumulation in muscles and other tissues. Without treatment, affected infants typically die within two years. Enzyme replacement therapy (ERT) has significantly improved survival and functional outcomes, especially with early initiation, higher dosing, immune modulation, and newer therapeutic options. However, effective noninvasive tools to monitor disease progression and treatment response are still needed. Quantitative muscle ultrasound (QMUS) may serve as a useful alternative.</div></div><div><h3>Objective</h3><div>To evaluate the effectiveness and feasibility of QMUS for monitoring muscle involvement in IOPD.</div></div><div><h3>Methods</h3><div>This study assessed echo intensity (EI) measurements from QMUS in eight patients with IOPD receiving long-term ERT. EI was recorded annually in seven muscle groups. EI &gt;50 units was considered abnormal, and a composite EI Sum Score was calculated. These values were compared with Gross Motor Function Measure (GMFM) scores using univariable regression.</div></div><div><h3>Results</h3><div>Patients began ERT at a median age of 7 weeks. QMUS assessments were performed, with ages ranging from 7 months to 21 years (median age of 9.5 years) at first evaluation. All patients had at least one muscle group with abnormal EI. Upper extremity EI was significantly lower (mean 47.3) than lower extremity muscle groups (mean 64.1, <em>p</em> = 0.002). Higher EI scores correlated with more severe myopathy and wheelchair use, while lower scores reflected better motor outcomes.</div></div><div><h3>Conclusions</h3><div>QMUS is a promising noninvasive tool for monitoring muscle health in patients with IOPD receiving ERT. It may aid in assessing disease progression and treatment efficacy.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109237"},"PeriodicalIF":3.5,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature","authors":"Chloé J. Geerts ,&nbsp;Fernando Alvarez ,&nbsp;Brian M. Gilfix ,&nbsp;Matthew J. Schultz ,&nbsp;Philippe M. Campeau","doi":"10.1016/j.ymgme.2025.109234","DOIUrl":"10.1016/j.ymgme.2025.109234","url":null,"abstract":"<div><div>CCDC115-CDG is a recently described combined N- and O-linked congenital disorder of glycosylation affecting Golgi apparatus homeostasis. To date, only thirteen patients have been reported with this condition. The clinical presentation is characterized by hepatosplenomegaly, elevated serum aminotransferases and alkaline phosphatase, often accompanied by psychomotor delay and hypotonia, hypercholesterolemia and copper metabolism anomalies, features that can mimic Wilson disease. Serum transferrin capillary electrophoresis shows a pattern compatible with abnormal Golgi N-glycosylation. We gathered phenotype descriptions and molecular data from all reported patients to better characterize this condition and explore potential genotype-phenotype correlation. Notably, we observed that homozygosity for the p.Leu31Ser variant is associated with higher serum transaminase levels. We also report the natural history of a patient, as clinical narratives are lacking in the literature for this condition. In summary, our report provides new insights into the natural history and genotype-phenotype correlation of CCDC115-CDG, key elements to focus on in ultra-rare conditions.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"146 3","pages":"Article 109234"},"PeriodicalIF":3.5,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145213266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}