1 |
Richards S , Aziz N , Bale S , Bick D , Das S , Gastier-Foster J , Grody WW , Hegde M , Lyon E , Spector E , Voelkerding K , Rehm HL , ACMG Laboratory Quality Assurance Committee . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17: 405- 424.
doi: 10.1038/gim.2015.30
|
2 |
Chen W , Chang B , Saha P , Hartig SM , Li L , Reddy VT , Yang Y , Yechoor V , Mancini MA , Chan L . Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. Mol Cell Biol, 2012, 32: 1099- 1111.
doi: 10.1128/MCB.06465-11
|
3 |
Lundin C , Nordström R , Wagner K , Windpassinger C , Andersson H , von Heijne G , Nilsson I . Membrane topology of the human seipin protein. FEBS Lett, 2006, 580: 2281- 2284.
doi: 10.1016/j.febslet.2006.03.040
|
4 |
Liu R , Tan HJ , Liu JJ , Song YZ . A case report of congenital generalized lipodystrophy. Zhongguo Dang Dai Er Ke Za Zhi, 2018, 20: 857- 860.
|
5 |
Özalkak Ş, Demiral M, Ünal E, Taş FF, Onay H, Demirbilek H, Özbek MN. Metreleptin treatment in a boy with congenital generalized lipodystrophy due to homozygous c. 465_468delGACT (p. T156Rfs*8) mutation in the BSCL2 gene: the first-year results[J]. J Clin Res Pediatr Endocrinol, 2022. [Epub ahead of print]
|
6 |
Ito D , Suzuki N . Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain, 2009, 132 (Pt 1): 8- 15.
|
7 |
Irobi J , Van den Bergh P , Merlini L , Verellen C , Van Maldergem L , Dierick I , Verpoorten N , Jordanova A , Windpassinger C , De Vriendt E , Van Gerwen V , Auer-Grumbach M , Wagner K , Timmerman V , De Jonghe P . The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain, 2004, 127 (Pt 9): 2124- 2130.
|
8 |
Windpassinger C , Auer-Grumbach M , Irobi J , Patel H , Petek E , Hörl G , Malli R , Reed JA , Dierick I , Verpoorten N , Warner TT , Proukakis C , Van den Bergh P , Verellen C , Van Maldergem L , Merlini L , De Jonghe P , Timmerman V , Crosby AH , Wagner K . Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet, 2004, 36: 271- 276.
doi: 10.1038/ng1313
|
9 |
Frasquet M , Rojas-García R , Argente-Escrig H , Vázquez-Costa JF , Muelas N , Vílchez JJ , Sivera R , Millet E , Barreiro M , Díaz-Manera J , Turon-Sans J , Cortés-Vicente E , Querol L , Ramírez-Jiménez L , Martínez-Rubio D , Sánchez-Monteagudo A , Espinós C , Sevilla T , Lupo V . Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation. Eur J Neurol, 2021, 28: 1334- 1343.
doi: 10.1111/ene.14700
|
10 |
Minami K , Takahashi S , Nihei Y , Oki K , Suzuki S , Ito D , Takashima H , Suzuki N . The first report of a Japanese case of seipinopathy with a BSCL2 N88S mutation. Intern Med, 2018, 57: 613- 615.
doi: 10.2169/internalmedicine.8765-16
|
11 |
Cen Z , Lu X , Wang Z , Ouyang Z , Xie F , Luo W . BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature. J Clin Neurosci, 2015, 22: 429- 430.
doi: 10.1016/j.jocn.2014.08.010
|
12 |
Thomas Q , Vitobello A , Tran Mau-Them F , Duffourd Y , Fromont A , Giroud M , Daubail B , Jacquin-Piques A , Hervieu-Begue M , Moreau T , Osseby GV , Garret P , Nambot S , Delanne J , Bruel AL , Sorlin A , Callier P , Denomme-Pichon AS , Faivre L , Béjot Y , Philippe C , Thauvin-Robinet C , Moutton S . High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. J Med Genet, 2022, 59: 445- 452.
doi: 10.1136/jmedgenet-2020-107369
|
13 |
Ramos-Lopes J , Ribeiro J , Laço M , Alves C , Matos A , Costa C . A de novo BSCL2 gene S90L mutation in a progressive tetraparesis with urinary dysfunction and corpus callosum involvement. J Pediatr Genet, 2021, 10: 253- 258.
doi: 10.1055/s-0040-1713768
|
14 |
Chen B , Zheng RL , Luan XH , Zhang W , Wang ZX , Yuan Y . A pedigree of distal hereditary motor neuropathy type V. Zhonghua Shen Jing Ke Za Zhi, 2008, 41: 670- 673.
doi: 10.3321/j.issn:1006-7876.2008.10.006
|
|
陈彬, 郑日亮, 栾兴华, 张巍, 王朝霞, 袁云. 远端型遗传性运动神经病V型一家系. 中华神经科杂志, 2008, 41: 670- 673.
doi: 10.3321/j.issn:1006-7876.2008.10.006
|
15 |
Li T , Lü X , Xiao H , Li LY , Guo QN , Wang HD , Zhang B , Zhang CY , Wang X , Liao SX . Genetic analysis of a pedigree distal hereditary motor neuronopathy type V. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019, 36: 207- 211.
|
|
李涛, 吕雪, 肖海, 李六一, 郭谦楠, 王红丹, 张波, 张朝阳, 王鑫, 廖世秀. 远端遗传性运动神经元病V型一家系的基因分析. 中华医学遗传学杂志, 2019, 36: 207- 211.
|
16 |
Shi RT , Zhou JW , Deng SW , Jiang SS , He SJ , Song XM , Chen Z . Study of exome sequencing in a distal hereditary motor neuron family. Zhong Shan Da Xue Xue Bao (Yi Xue Ke Xue Ban), 2015, 36: 209- 214.
doi: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2015.0033
|
|
师蕊婷, 周建文, 邓素雯, 蒋嵩山, 何姝婧, 宋新明, 陈争. 远端型遗传性运动神经元病家系全基因组外显子测序研究. 中山大学学报(医学科学版), 2015, 36: 209- 214.
doi: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2015.0033
|
17 |
Rakocević-Stojanović V , Milić-Rasić V , Perić S , Baets J , Timmerman V , Dierick I , Pavlović S , De Jonghe P . N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. J Neurol Sci, 2010, 296: 107- 109.
doi: 10.1016/j.jns.2010.06.015
|
18 |
Musacchio T , Zaum AK , Üçeyler N , Sommer C , Pfeifroth N , Reiners K , Kunstmann E , Volkmann J , Rost S , Klebe S . ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. J Neurol, 2017, 264: 11- 20.
doi: 10.1007/s00415-016-8301-2
|
19 |
Hsiao CT , Tsai PC , Lin CC , Liu YT , Huang YH , Liao YC , Huang HW , Lin KP , Soong BW , Lee YC . Clinical and molecular characterization of BSCL2 mutations in a Taiwanese cohort with hereditary neuropathy. PLoS One, 2016, 11: e0147677.
doi: 10.1371/journal.pone.0147677
|
20 |
Ning B , Zhang Q , Wang N , Deng M , Fang Y . Correction to: β-asarone regulates ER stress and autophagy via inhibition of the PERK/CHOP/Bcl-2/Beclin-1 pathway in 6-OHDA-induced Parkinsonian rats. Neurochem Res, 2022, 47: 2123- 2125.
doi: 10.1007/s11064-022-03601-4
|
21 |
Hu Y , Tian L , Ma K , Li W , Hu L , Fei G , Zhang T , Yu D , Xu L , Wang F , Xiao B , Chen L . ER stress-related protein, CHOP, may serve as a biomarker of mechanical asphyxia: a primary study. Int J Legal Med, 2022, 136: 1091- 1104.
doi: 10.1007/s00414-021-02770-1
|
22 |
Ito D , Suzuki N . Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. Ann Neurol, 2007, 61: 237- 250.
doi: 10.1002/ana.21070
|
23 |
Guo J , Qiu W , Soh SL , Wei S , Radda GK , Ong WY , Pang ZP , Han W . Motor neuron degeneration in a mouse model of seipinopathy. Cell Death Dis, 2013, 4: e535.
doi: 10.1038/cddis.2013.64
|
24 |
Li Y , Yang X , Peng L , Xia Q , Zhang Y , Huang W , Liu T , Jia D . Role of seipin in human diseases and experimental animal models. Biomolecules, 2022, 12: 840.
doi: 10.3390/biom12060840
|