NDLI: Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Please wait, while we are loading the content...

Year: 2017 Volume: 100

Year: 2016 Volume: 99

Year: 2016 Volume: 98

Year: 2015 Volume: 97

Year: 2015 Volume: 96

Year: 2014 Volume: 95

Year: 2014 Volume: 94

Year: 2013 Volume: 93

Year: 2013 Volume: 92

Year: 2012 Volume: 91

Year: 2012 Volume: 90

Year: 2011 Volume: 89

Year: 2011 Volume: 89 Issue: 6

Year: 2011 Volume: 89 Issue: 5

Year: 2011 Volume: 89 Issue: 4

Year: 2011 Volume: 89 Issue: 3

Year: 2011 Volume: 89 Issue: 2

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

Studying gene and gene-environment effects of uncommon and common variants on continuous traits: a marker-set approach using gene-trait similarity regression.

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.

Year: 2011 Volume: 89 Issue: 1

Year: 2011 Volume: 88

Year: 2010 Volume: 87

Year: 2010 Volume: 86

Year: 2009 Volume: 85

Year: 2009 Volume: 84

Year: 2008 Volume: 83

Year: 2008 Volume: 82

Year: 2007 Volume: 81

Year: 2007 Volume: 80

Year: 2006 Volume: 79

Year: 2006 Volume: 78

Year: 2005 Volume: 77

Year: 2005 Volume: 76

Year: 2004 Volume: 75

Year: 2004 Volume: 74

Year: 2003 Volume: 73

Year: 2003 Volume: 72

Year: 2002 Volume: 71

Year: 2002 Volume: 70

Year: 2001 Volume: 69

Year: 2001 Volume: 68

Year: 2000 Volume: 67

Year: 2000 Volume: 66

Year: 1999 Volume: 65

Year: 1999 Volume: 64

Year: 1998 Volume: 63

Year: 1998 Volume: 62

Year: 1997 Volume: 61

Year: 1997 Volume: 60

Year: 1996 Volume: 59

Year: 1996 Volume: 58

Year: 1995 Volume: 57

Year: 1995 Volume: 56

Year: 1994 Volume: 55

Year: 1994 Volume: 54

Year: 1993 Volume: 53

Year: 1993 Volume: 52

Year: 1992 Volume: 51

Year: 1992 Volume: 50

Year: 1991 Volume: 49

Year: 1991 Volume: 48

Year: 1990 Volume: 47

Year: 1990 Volume: 46

Year: 1989 Volume: 45

Year: 1989 Volume: 44

Year: 1988 Volume: 43

Year: 1988 Volume: 42

Year: 1987 Volume: 41

Year: 1987 Volume: 40

Year: 1986 Volume: 39

Year: 1986 Volume: 38

Year: 1985 Volume: 37

Year: 1984 Volume: 36

Year: 1983 Volume: 35

Year: 1982 Volume: 34

Year: 1981 Volume: 33

Year: 1980 Volume: 32

Year: 1979 Volume: 31

Year: 1978 Volume: 30

Year: 1977 Volume: 29

Year: 1976 Volume: 28

Year: 1975 Volume: 27

Year: 1974 Volume: 26

Year: 1973 Volume: 25

Year: 1972 Volume: 24

Year: 1971 Volume: 23

Year: 1970 Volume: 22

Year: 1969 Volume: 21

Year: 1968 Volume: 20

Year: 1967 Volume: 19

Year: 1966 Volume: 18

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Sims, Katherine B. Pristoupilová, Anna Tyynelä, Jaana Ivánek, Robert Nosková, Lenka Nijssen, Peter C. G. Stránecký, Viktor Kmoch, Stanislav Jahnová, Helena Hartmannová, Hana Elleder, Milan Hulková, Helena Mole, Sara E. Baresová, Veronika Staropoli, John F. Van Broeckhoven, Christine Van Der Zee, Julie
Description	Country affiliation: Czech Republic Author Affiliation: Nosková L ( Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.)
Abstract	Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and neurodegeneration and has an age of onset in the third decade of life or later. The genetic and molecular basis of the disease has remained unknown for many years. We carried out linkage mapping, gene-expression analysis, exome sequencing, and candidate-gene sequencing in affected individuals from 20 families and/or individuals with simplex cases; we identified in five individuals one of two disease-causing mutations, c.346_348delCTC and c.344T>G, in DNAJC5 encoding cysteine-string protein alpha (CSP ). These mutations-causing a deletion, p.Leu116del, and an amino acid exchange, p.Leu115Arg, respectively-are located within the cysteine-string domain of the protein and affect both palmitoylation-dependent sorting and the amount of CSP in neuronal cells. The resulting depletion of functional CSP might cause in parallel the presynaptic dysfunction and the progressive neurodegeneration observed in affected individuals and lysosomal accumulation of misfolded and proteolysis-resistant proteins in the form of characteristic ceroid deposits in neurons. Our work represents an important step in the genetic dissection of a genetically heterogeneous group of ANCLs. It also confirms a neuroprotective role for CSP in humans and demonstrates the need for detailed investigation of CSP in the neuronal ceroid lipofuscinoses and other neurodegenerative diseases presenting with neuronal protein aggregation.
ISSN	00029297
e-ISSN	15376605
DOI	10.1016/j.ajhg.2011.07.003
Journal	The American Journal of Human Genetics
Issue Number	2
Volume Number	89
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	2011-08-12
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Genes, Dominant Genetics Hsp40 Heat-shock Proteins Membrane Proteins Mutation Neuronal Ceroid-lipofuscinoses Epidemiology Age Of Onset Brain Metabolism Pathology Ultrastructure Chromosome Segregation Exons Gene Dosage Gene Expression Regulation Genetic Linkage Lipoylation Lysosomes Molecular Sequence Data Neurons Pedigree Protein Transport Sequence Analysis, Dna Research Support, Non-u.s. Gov't Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in