scholarly journals A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families

2006 ◽  
Vol 51 (10) ◽  
pp. 872-878 ◽  
Author(s):  
Muhammad S. Chishti ◽  
Dost Muhammad ◽  
Mahmud Haider ◽  
Wasim Ahmad
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Dental Anomalies ◽  
Pakistani Families

scholarly journals A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

2014 ◽  
Vol 23 (22) ◽  
pp. 5940-5949 ◽  
Author(s):  
Muzammil A. Khan ◽  
Verena M. Rupp ◽  
Meritxell Orpinell ◽  
Muhammad S. Hussain ◽  
Janine Altmüller ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Pakistani Family ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly

scholarly journals Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

2018 ◽  
Vol 19 (10) ◽  
pp. 3099 ◽  
Author(s):  
Anna Malekkou ◽  
Maura Samarani ◽  
Anthi Drousiotou ◽  
Christina Votsi ◽  
Sandro Sonnino ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Biochemical Characterization ◽  
Fold Increase ◽  
Loss Of Function ◽  
Spastic Paraplegia ◽  
Spastic Ataxia ◽  
Autosomal Recessive Cerebellar Ataxia ◽  
Compensatory Effect

The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion of glucosylceramide (GlcCer) to ceramide and glucose. Mutations in GBA2 have been associated with the development of neurological disorders such as autosomal recessive cerebellar ataxia, hereditary spastic paraplegia, and Marinesco-Sjogren-Like Syndrome. Our group has previously identified the GBA2 c.1780G>C [p.Asp594His] missense mutation, in a Cypriot consanguineous family with spastic ataxia. In this study, we carried out a biochemical characterization of lymphoblastoid cell lines (LCLs) derived from three patients of this family. We found that the mutation strongly reduce NLGase activity both intracellularly and at the plasma membrane level. Additionally, we observed a two-fold increase of GlcCer content in LCLs derived from patients compared to controls, with the C16 lipid being the most abundant GlcCer species. Moreover, we showed that there is an apparent compensatory effect between NLGase and the lysosomal glucosylceramidase (GCase), since we found that the activity of GCase was three-fold higher in LCLs derived from patients compared to controls. We conclude that the c.1780G>C mutation results in NLGase loss of function with abolishment of the enzymatic activity and accumulation of GlcCer accompanied by a compensatory increase in GCase.

scholarly journals A missense mutation inASRGL1is involved in causing autosomal recessive retinal degeneration

2016 ◽  
pp. ddw113 ◽  
Author(s):  
Pooja Biswas ◽  
Venkata Ramana Murthy Chavali ◽  
Giulia Agnello ◽  
Everett Stone ◽  
Christina Chakarova ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Missense Mutation ◽  
Autosomal Recessive

A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
Mohammad Miryounesi ◽  
Soudeh Ghafouri-Fard ◽  
Hamedreza Goodarzi ◽  
Majid Fardaei
Keyword(s):  
Metabolic Disease ◽  
Missense Mutation ◽  
Maple Syrup Urine Disease ◽  
Autosomal Recessive ◽  
Maple Syrup ◽  
Urine Disease ◽  
Bckdhb Gene ◽  
Classic Form

AbstractMaple syrup urine disease (MSUD) is an autosomal recessive metabolic disease caused by mutations in the

Biallelic mutations in the LPAR 6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

2019 ◽  
Vol 58 (8) ◽  
pp. 946-952 ◽  
Author(s):  
Ghulam M. Khan ◽  
Noor Hassan ◽  
Niamatullah Khan ◽  
Muhammad Humayun ◽  
Kafaitullah Khan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Biallelic Mutations ◽  
Pakistani Families

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

2009 ◽  
Vol 25 (6) ◽  
pp. 715-720 ◽  
Author(s):  
Rizwana Kousar ◽  
Hira Nawaz ◽  
Maryam Khurshid ◽  
Ghazanfer Ali ◽  
Saad Ullah Khan ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly ◽  
Pakistani Families

A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient

2010 ◽  
Vol 57 (2) ◽  
pp. 132-134 ◽  
Author(s):  
M. Kurban ◽  
S. Ghosn ◽  
O. Abbas ◽  
Y. Shimomura ◽  
A. Christiano
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Woolly Hair ◽  
P2ry5 Gene

Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient

2013 ◽  
Vol 41 (1) ◽  
pp. 105-107 ◽  
Author(s):  
Linghua H. Liu ◽  
Jingwen W. Wang ◽  
Gang Chen ◽  
Ruixue X. Chang ◽  
Yi Zhou ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Chinese Patient ◽  
Homozygous Missense Mutation
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