Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

Angela Schulz; Sumeer Dhar; Svetlana Rylova; Ghassan Dbaibo; Joseph Alroy; Christian Hagel; Isabelo Artacho; Alfried Kohlschütter; Simon Lin; Rose-Mary Boustany

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

Standard

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. / Schulz, Angela; Dhar, Sumeer; Rylova, Svetlana; Dbaibo, Ghassan; Alroy, Joseph; Hagel, Christian; Artacho, Isabelo; Kohlschütter, Alfried; Lin, Simon; Boustany, Rose-Mary.

in: ANN NEUROL, Jahrgang 56, Nr. 3, 3, 2004, S. 342-350.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Schulz, A, Dhar, S, Rylova, S, Dbaibo, G, Alroy, J, Hagel, C, Artacho, I, Kohlschütter, A, Lin, S & Boustany, R-M 2004, 'Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.', ANN NEUROL, Jg. 56, Nr. 3, 3, S. 342-350. <http://www.ncbi.nlm.nih.gov/pubmed/15349861?dopt=Citation>

APA

Schulz, A., Dhar, S., Rylova, S., Dbaibo, G., Alroy, J., Hagel, C., Artacho, I., Kohlschütter, A., Lin, S., & Boustany, R-M. (2004). Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. ANN NEUROL, 56(3), 342-350. [3]. http://www.ncbi.nlm.nih.gov/pubmed/15349861?dopt=Citation

Vancouver

Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C et al. Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. ANN NEUROL. 2004;56(3):342-350. 3.

Bibtex

@article{c52a6a05d1a64616bf2c670642f6d525,

title = "Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.",

abstract = "We describe the ninth variant of neuronal ceroid lipofuscinosis (NCL) or Batten disease, due to defects in a putative new gene, CLN9. We therefore refer to the new variant as CLN9-deficient. Two Serbian sisters and two German brothers are described. Their clinical history is characteristic for juvenile NCL. They show similar gene expression patterns. The existence of this variant is supported by the presence of curvilinear inclusions, fingerprint profiles, and granular osmiophilic deposits in neurons, lymphocytes, and conjunctival cells. Enzyme screening and sequencing of the coding regions of other NCL genes was negative. CLN9-deficient cells have a distinctive phenotype. They have rounded cell bodies, have prominent nucleoli, attach poorly to the culture dish, and are sensitive to apoptosis but have increased growth rates. Gene expression of proteins involved in cell adhesion and apoptosis is altered in these cells. Sphingolipid metabolism is also perturbed. They have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside and increased activity of serine palmitoyl transferase.",

author = "Angela Schulz and Sumeer Dhar and Svetlana Rylova and Ghassan Dbaibo and Joseph Alroy and Christian Hagel and Isabelo Artacho and Alfried Kohlsch{\"u}tter and Simon Lin and Rose-Mary Boustany",

year = "2004",

language = "Deutsch",

volume = "56",

pages = "342--350",

journal = "ANN NEUROL",

issn = "0364-5134",

publisher = "John Wiley and Sons Inc.",

number = "3",

}

RIS

TY - JOUR

T1 - Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

AU - Schulz, Angela

AU - Dhar, Sumeer

AU - Rylova, Svetlana

AU - Dbaibo, Ghassan

AU - Alroy, Joseph

AU - Hagel, Christian

AU - Artacho, Isabelo

AU - Kohlschütter, Alfried

AU - Lin, Simon

AU - Boustany, Rose-Mary

PY - 2004

Y1 - 2004

N2 - We describe the ninth variant of neuronal ceroid lipofuscinosis (NCL) or Batten disease, due to defects in a putative new gene, CLN9. We therefore refer to the new variant as CLN9-deficient. Two Serbian sisters and two German brothers are described. Their clinical history is characteristic for juvenile NCL. They show similar gene expression patterns. The existence of this variant is supported by the presence of curvilinear inclusions, fingerprint profiles, and granular osmiophilic deposits in neurons, lymphocytes, and conjunctival cells. Enzyme screening and sequencing of the coding regions of other NCL genes was negative. CLN9-deficient cells have a distinctive phenotype. They have rounded cell bodies, have prominent nucleoli, attach poorly to the culture dish, and are sensitive to apoptosis but have increased growth rates. Gene expression of proteins involved in cell adhesion and apoptosis is altered in these cells. Sphingolipid metabolism is also perturbed. They have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside and increased activity of serine palmitoyl transferase.

AB - We describe the ninth variant of neuronal ceroid lipofuscinosis (NCL) or Batten disease, due to defects in a putative new gene, CLN9. We therefore refer to the new variant as CLN9-deficient. Two Serbian sisters and two German brothers are described. Their clinical history is characteristic for juvenile NCL. They show similar gene expression patterns. The existence of this variant is supported by the presence of curvilinear inclusions, fingerprint profiles, and granular osmiophilic deposits in neurons, lymphocytes, and conjunctival cells. Enzyme screening and sequencing of the coding regions of other NCL genes was negative. CLN9-deficient cells have a distinctive phenotype. They have rounded cell bodies, have prominent nucleoli, attach poorly to the culture dish, and are sensitive to apoptosis but have increased growth rates. Gene expression of proteins involved in cell adhesion and apoptosis is altered in these cells. Sphingolipid metabolism is also perturbed. They have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside and increased activity of serine palmitoyl transferase.

M3 - SCORING: Zeitschriftenaufsatz

VL - 56

SP - 342

EP - 350

JO - ANN NEUROL

JF - ANN NEUROL

SN - 0364-5134

IS - 3

M1 - 3

ER -