4.8 Article

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

Related references

Note: Only part of the references are listed.
Review Genetics & Heredity

X-linked disorders with cerebellar dysgenesis

Ginevra Zanni et al.

ORPHANET JOURNAL OF RARE DISEASES (2011)

Article Pediatrics

NON-PROGRESSIVE ATAXIA: ORIGINS, BRAIN PATHOLOGY AND IMPAIRMENTS IN 78 SWEDISH CHILDREN

Eva Esscher et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)

Article Neurosciences

KCa Channels as Therapeutic Targets in Episodic Ataxia Type-2

Karina Alvina et al.

JOURNAL OF NEUROSCIENCE (2010)

Review Genetics & Heredity

Joubert Syndrome and related disorders

Francesco Brancati et al.

ORPHANET JOURNAL OF RARE DISEASES (2010)

Review Neurosciences

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

Stephanie Schorge et al.

TRENDS IN NEUROSCIENCES (2010)

Article Clinical Neurology

Calcium/Calmodulin-Dependent Serine Protein Kinase and Mental Retardation

Yi-Ping Hsueh

ANNALS OF NEUROLOGY (2009)

Review Cell Biology

Emerging pathogenic pathways in the spinocerebellar ataxias

Kerri M. Carlson et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2009)

Review Physiology

Calcium Pumps in Health and Disease

Marisa Brini et al.

PHYSIOLOGICAL REVIEWS (2009)

Article Physiology

Plasma membrane Ca2+-ATPase: from a housekeeping function to a versatile signaling role

Marisa Brini

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2009)

Article Genetics & Heredity

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

Ginevra Zanni et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Neurosciences

Perisynaptic organization of plasma membrane calcium pumps in cerebellar cortex

Alain Burette et al.

JOURNAL OF COMPARATIVE NEUROLOGY (2007)

Article Multidisciplinary Sciences

A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness

R. Ficarella et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Biochemistry & Molecular Biology

The Homer-1 protein Ania-3 interacts with the plasma membrane calcium pump

V Sgambato-Faure et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)

Review Cell Biology

Caveolae and calcium handling, a review and a hypothesis

E. E. Daniel et al.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2006)

Article Biochemistry & Molecular Biology

Inhibitory interaction of the 14-3-3ε protein with isoform 4 of the plasma membrane Ca2+-ATPase pump

A Rimessi et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

Article Medicine, General & Internal

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

JM Schultz et al.

NEW ENGLAND JOURNAL OF MEDICINE (2005)

Article Chemistry, Multidisciplinary

UCSF chimera - A visualization system for exploratory research and analysis

EF Pettersen et al.

JOURNAL OF COMPUTATIONAL CHEMISTRY (2004)

Article Biochemistry & Molecular Biology

A comparative functional analysis of plasma membrane Ca2+pump isoforms in intact cells

M Brini et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Biochemistry & Molecular Biology

Interaction of the plasma membrane Ca2+ pump 4b/CI with the Ca2+/calmodulin-dependent membrane-associated kinase CASK

K Schuh et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Biochemistry & Molecular Biology

Asp1080 upstream of the calmodulin-binding domain is critical for autoinhibition of hPMCA4b

K Pászty et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

Article Biochemistry & Molecular Biology

Tryptophan 1093 is largely responsible for the slow off rate of calmodulin from plasma membrane Ca2+ pump 4b

AR Penheiter et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

Article Neurosciences

Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1)

PJS Vig et al.

BRAIN RESEARCH BULLETIN (2001)

Article Biochemistry & Molecular Biology

Effects of PMCA and SERCA pump overexpression on the kinetics of cell Ca2+ signalling

M Brini et al.

EMBO JOURNAL (2000)