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Year Number of Results
1993 3
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2002 5
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2005 5
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2007 11
2008 10
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2012 17
2013 21
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340 results

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Page 1
BSCL2-Related Neurologic Disorders / Seipinopathy.
Ito D. Ito D. 2005 Dec 6 [updated 2018 May 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Dec 6 [updated 2018 May 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301484 Free Books & Documents. Review.
Disease severity is variable among and within families. DIAGNOSIS/TESTING: The diagnosis of a BSCL2-related neurologic disorder is established in a proband with characteristic clinical and electrophysiologic features and identification of a heterozygous BSCL2 pathog …
Disease severity is variable among and within families. DIAGNOSIS/TESTING: The diagnosis of a BSCL2-related neurologic disorder is es …
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S, Fernández-Pombo A, Cobelo-Gómez S, Hermida-Ameijeiras Á, Alarcón-Martínez H, Domingo-Jiménez R, Ruíz Riquelme AI, Requena JR, Araújo-Vilar D. Sánchez-Iglesias S, et al. J Clin Med. 2021 Apr 1;10(7):1435. doi: 10.3390/jcm10071435. J Clin Med. 2021. PMID: 33916074 Free PMC article. Review.
Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in BSCL2 can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progressive …
Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain v …
BSCL2/Seipin deficiency in hearts causes cardiac energy deficit and dysfunction via inducing excessive lipid catabolism.
Zhou H, Li J, Su H, Li J, Lydic TA, Young ME, Chen W. Zhou H, et al. Clin Transl Med. 2022 Apr;12(4):e736. doi: 10.1002/ctm2.736. Clin Transl Med. 2022. PMID: 35384404 Free PMC article.
BACKGROUND: Heart failure (HF) is one of the leading causes of death worldwide and is associated with cardiac metabolic perturbations. Human Type 2 Berardinelli-Seip Congenital Lipodystrophy (BSCL2) disease is caused by mutations in the BSCL2 gene. Global lipodystro …
BACKGROUND: Heart failure (HF) is one of the leading causes of death worldwide and is associated with cardiac metabolic perturbations. Human …
Hereditary Spastic Paraplegia Overview.
Hedera P. Hedera P. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301682 Free Books & Documents. Review.
Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.
Zhou H, Lei X, Yan Y, Lydic T, Li J, Weintraub NL, Su H, Chen W. Zhou H, et al. JCI Insight. 2019 Jun 11;5(14):e129781. doi: 10.1172/jci.insight.129781. JCI Insight. 2019. PMID: 31185001 Free PMC article.
Mutations in BSCL2 gene underlie human type 2 Berardinelli-Seip Congenital Lipodystrophy (BSCL2) disease. Global Bscl2-/- mice recapitulate human BSCL2 lipodystrophy and develop insulin resistance and hypertrophic cardiomyopathy. ...
Mutations in BSCL2 gene underlie human type 2 Berardinelli-Seip Congenital Lipodystrophy (BSCL2) disease. Global Bscl2- …
Function of seipin: new insights from Bscl2/seipin knockout mouse models.
Dollet L, Magré J, Cariou B, Prieur X. Dollet L, et al. Biochimie. 2014 Jan;96:166-72. doi: 10.1016/j.biochi.2013.06.022. Epub 2013 Jul 2. Biochimie. 2014. PMID: 23831461 Review.
However, the exact function of the protein remains unclear and the pathophysiology of BSCL in patients carrying BSCL2/seipin mutations is poorly understood. A major breakthrough in the field of seipin came recently, with the demonstration by three independent groups that …
However, the exact function of the protein remains unclear and the pathophysiology of BSCL in patients carrying BSCL2/seipin mutation …
Ablation of Bscl2/seipin in hepatocytes does not cause metabolic dysfunction in congenital generalised lipodystrophy.
Mcilroy GD, Mitchell SE, Han W, Delibegović M, Rochford JJ. Mcilroy GD, et al. Dis Model Mech. 2020 Jan 17;13(1):dmm042655. doi: 10.1242/dmm.042655. Dis Model Mech. 2020. PMID: 31848133 Free PMC article.
Given the critical role of the liver in glucose regulation, we speculated that intact hepatic Bscl2 expression may protect adipose tissue-specific Bscl2-deficient mice from metabolic disease. ...No significant increases in lipid accumulation were observed in BSCL …
Given the critical role of the liver in glucose regulation, we speculated that intact hepatic Bscl2 expression may protect adipose ti …
The ménage à trois of autophagy, lipid droplets and liver disease.
Filali-Mouncef Y, Hunter C, Roccio F, Zagkou S, Dupont N, Primard C, Proikas-Cezanne T, Reggiori F. Filali-Mouncef Y, et al. Autophagy. 2022 Jan;18(1):50-72. doi: 10.1080/15548627.2021.1895658. Epub 2021 Apr 2. Autophagy. 2022. PMID: 33794741 Free PMC article. Review.
Particular attention is paid to the role of macroautophagy and macrolipophagy in relation to the parenchymal and non-parenchymal cells of the liver in NASH, as this disease has been associated with inappropriate lipophagy in various cell types of the liver.Abbreviations: ACAT: ac …
Particular attention is paid to the role of macroautophagy and macrolipophagy in relation to the parenchymal and non-parenchymal cells of th …
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
Su X, Lin Y, Liu L, Mei H, Xu A, Zeng C, Sheng H, Cheng J, Shao Y, Zheng R, Ting TH, Zhang W, Li X. Su X, et al. J Pediatr Endocrinol Metab. 2022 Nov 28;36(1):74-80. doi: 10.1515/jpem-2022-0372. Print 2023 Jan 27. J Pediatr Endocrinol Metab. 2022. PMID: 36433712 Review.
In this cohort, the most frequent variations are c.782dupG and c.974dup in the BSCL2 gene. However, the same genotype may have different clinical phenotypes in patients with CGL2. ...
In this cohort, the most frequent variations are c.782dupG and c.974dup in the BSCL2 gene. However, the same genotype may have differ …
Bscl2 Deficiency Does Not Directly Impair the Innate Immune Response in a Murine Model of Generalized Lipodystrophy.
Roumane A, Mcilroy GD, Balci A, Han W, Delibegović M, Baldassarre M, Newsholme P, Rochford JJ. Roumane A, et al. J Clin Med. 2021 Jan 23;10(3):441. doi: 10.3390/jcm10030441. J Clin Med. 2021. PMID: 33498782 Free PMC article.
Congenital Generalized Lipodystrophy type 2 (CGL2) is the most severe form of lipodystrophy and is caused by mutations in the BSCL2 gene. Affected patients exhibit a near complete lack of adipose tissue and suffer severe metabolic disease. A recent study identified infecti …
Congenital Generalized Lipodystrophy type 2 (CGL2) is the most severe form of lipodystrophy and is caused by mutations in the BSCL2 g …
340 results